Dzerassa Kadieva, Federico Gallo, Maxim Ulanov, Anna Shestakova, Victoria Moiseeva, Alina Hodorovskaya, Olga Agranovich
Background. Obstetric brachial plexus palsy (OBPP) is an injury-related disease in newborns, usually originating from nerve tearing during a difficult vaginal delivery, leading to paralysis of one of the upper limbs. Even though modern treatment methods can guarantee almost full reinnervation of the limb, some patients still show poor motor function. One of the reason for this discrepancy might be the alternation in the brain resulting from a restricted use of the limb since birth.
Aim. The present study thus aimed to compare gray matter volumes between children with OBPP and healthy.
Methods. Using a voxel-based morphometry (VBM) technique in SPM12 package (Statistical Parametric Mapping) in MATLAB R2019b, we analyzed forty-six structural MRIs of children with OBPP (n=24, mean age=10.2, 12 female, n females=12) and healthy age-matched controls (n=22, mean age=9.63, n females=10).
Results. We found volumetric differences between patients and healthy controls which survived a stringent FWE control over false discovery (all with FWE-corrected p 0.005). The results indicated that children with OBPP had significantly lower volumes of the left Amygdala, Hippocampus and right Entorhinal area.
Conclusion. Taking into account previous investigations of these areas, we can speculate that the Amygdala-Hippocampus-Entorhinal Cortex complex might play a significant role in motor-related behavior.
{"title":"Exploring structural brain atypicalities in children with obstetric brachial plexus palsy: a voxel-based morphometry analysis.","authors":"Dzerassa Kadieva, Federico Gallo, Maxim Ulanov, Anna Shestakova, Victoria Moiseeva, Alina Hodorovskaya, Olga Agranovich","doi":"10.23868/gc568311","DOIUrl":"https://doi.org/10.23868/gc568311","url":null,"abstract":"Background. Obstetric brachial plexus palsy (OBPP) is an injury-related disease in newborns, usually originating from nerve tearing during a difficult vaginal delivery, leading to paralysis of one of the upper limbs. Even though modern treatment methods can guarantee almost full reinnervation of the limb, some patients still show poor motor function. One of the reason for this discrepancy might be the alternation in the brain resulting from a restricted use of the limb since birth.
 Aim. The present study thus aimed to compare gray matter volumes between children with OBPP and healthy.
 Methods. Using a voxel-based morphometry (VBM) technique in SPM12 package (Statistical Parametric Mapping) in MATLAB R2019b, we analyzed forty-six structural MRIs of children with OBPP (n=24, mean age=10.2, 12 female, n females=12) and healthy age-matched controls (n=22, mean age=9.63, n females=10).
 Results. We found volumetric differences between patients and healthy controls which survived a stringent FWE control over false discovery (all with FWE-corrected p 0.005). The results indicated that children with OBPP had significantly lower volumes of the left Amygdala, Hippocampus and right Entorhinal area.
 Conclusion. Taking into account previous investigations of these areas, we can speculate that the Amygdala-Hippocampus-Entorhinal Cortex complex might play a significant role in motor-related behavior.","PeriodicalId":12644,"journal":{"name":"Genes and Cells","volume":"39 11","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136346996","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Igor V. Shirolapov, Alexander V. Zakharov, Svetlana V. Bulgakova, Elena V. Khivintseva, Mariya S. Sergeeva, Natalia P. Romanchuk, Olga N. Pavlova, Victor B. Kazantsev
The complex interaction between a number of age-related factors, including cellular aging, impair of the sleep-wake cycle and architecture and/or quality of sleep, inflammaging, and the development of comorbidities, determines not only life expectancy in general, but also forms the basis of healthy and unhealthy ageing in particular. An imbalance in the homeostatic functions that support the exchange of fluid and solutes in the cerebral tissue, which can be observed both in normal physiological ageing and in the development of neuropathology, has longitudinal consequences ranging from impaired synaptic signaling to the onset of neurodegenerative diseases. Recently, the concept of the Glymphatic system as a highly organized perivascular pathway has been formed, which connects the cerebrospinal fluid with the lymphatic vessels of the meninges through the brain tissue. Although the precise molecular mechanisms of the glymphatic pathway have not yet been completely characterized, the key processes underlying solute transport and metabolite clearance have already been substantially identified. This review analyzes current scientific information in this area of research, describes in detail the features of the perivascular glial-dependent clearance system, and discusses that its dysfunction assumes fundamental importance in the pathological accumulation of metabolites during ageing, the development of age-related changes in the brain, and the progression of neurodegenerative diseases.
{"title":"Glymphatic dysfunction in the pathogenesis of neurodegenerative diseases and pathological aging","authors":"Igor V. Shirolapov, Alexander V. Zakharov, Svetlana V. Bulgakova, Elena V. Khivintseva, Mariya S. Sergeeva, Natalia P. Romanchuk, Olga N. Pavlova, Victor B. Kazantsev","doi":"10.23868/gc546022","DOIUrl":"https://doi.org/10.23868/gc546022","url":null,"abstract":"The complex interaction between a number of age-related factors, including cellular aging, impair of the sleep-wake cycle and architecture and/or quality of sleep, inflammaging, and the development of comorbidities, determines not only life expectancy in general, but also forms the basis of healthy and unhealthy ageing in particular. An imbalance in the homeostatic functions that support the exchange of fluid and solutes in the cerebral tissue, which can be observed both in normal physiological ageing and in the development of neuropathology, has longitudinal consequences ranging from impaired synaptic signaling to the onset of neurodegenerative diseases. Recently, the concept of the Glymphatic system as a highly organized perivascular pathway has been formed, which connects the cerebrospinal fluid with the lymphatic vessels of the meninges through the brain tissue. Although the precise molecular mechanisms of the glymphatic pathway have not yet been completely characterized, the key processes underlying solute transport and metabolite clearance have already been substantially identified. This review analyzes current scientific information in this area of research, describes in detail the features of the perivascular glial-dependent clearance system, and discusses that its dysfunction assumes fundamental importance in the pathological accumulation of metabolites during ageing, the development of age-related changes in the brain, and the progression of neurodegenerative diseases.","PeriodicalId":12644,"journal":{"name":"Genes and Cells","volume":"31 14","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135041791","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Natalia N. Mitina, Elena Vladimirovna Kondakova, Victor S. Tarabykin, Aleksey A. Babaev
Animal models of epilepsy are valuable tools for studying the pathogenesis of the disease, developing new methods of treatment, searching for anticonvulsants and evaluating their effectiveness. Rodents, such as rats and mice, are the most popular subjects for research due to the similarity of the human and rodent brain structure. Recent studies include other model species such as dogs, cats, primates, as well as non-mammals such as zebrafish, fruit flies, leeches and planarians. This article discusses the use of animal models in research and analyzes their advantages and limitations. The classification of models is based on the phenotype of the disorder , with special attention paid to drug-resistant epilepsy. The article also highlights the imperfection of existing models and the need to select the most relevant for specific research purposes. It is also important to remember that animal models cannot fully recreate the complexity of the clinical picture of epilepsy in humans, but they play an important role in understanding the mechanisms of the disease and developing new therapeutic approaches.
In conclusion, the article highlights the need for continuous improvement of existing animal models and the development of new ones to more accurately reflect the diversity of epilepsy phenotypes and provide more effective research and treatment methods. The need for new models of drug-resistant epilepsy, which could help in the development of fundamentally new antiepileptic drugs, remains particularly relevant.
{"title":"ANIMAL MODELS OF EPILEPSY","authors":"Natalia N. Mitina, Elena Vladimirovna Kondakova, Victor S. Tarabykin, Aleksey A. Babaev","doi":"10.23868/gc568026","DOIUrl":"https://doi.org/10.23868/gc568026","url":null,"abstract":"Animal models of epilepsy are valuable tools for studying the pathogenesis of the disease, developing new methods of treatment, searching for anticonvulsants and evaluating their effectiveness. Rodents, such as rats and mice, are the most popular subjects for research due to the similarity of the human and rodent brain structure. Recent studies include other model species such as dogs, cats, primates, as well as non-mammals such as zebrafish, fruit flies, leeches and planarians. This article discusses the use of animal models in research and analyzes their advantages and limitations. The classification of models is based on the phenotype of the disorder , with special attention paid to drug-resistant epilepsy. The article also highlights the imperfection of existing models and the need to select the most relevant for specific research purposes. It is also important to remember that animal models cannot fully recreate the complexity of the clinical picture of epilepsy in humans, but they play an important role in understanding the mechanisms of the disease and developing new therapeutic approaches.
 In conclusion, the article highlights the need for continuous improvement of existing animal models and the development of new ones to more accurately reflect the diversity of epilepsy phenotypes and provide more effective research and treatment methods. The need for new models of drug-resistant epilepsy, which could help in the development of fundamentally new antiepileptic drugs, remains particularly relevant.","PeriodicalId":12644,"journal":{"name":"Genes and Cells","volume":"20 9","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135774050","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Guzalia Zakyrjanova, Andrei Tsentsevitsky, Giniatullin Arthur, Sonia Madeleine Fogaing Nghomsi, Eva Kuznetsova, Alexey Petrov
25-hydroxycholesterol (25HC) is produced from cholesterol by cholesterol-25-hydroxylase, the expression of which, like the level of 25HC, increases significantly in macrophages, dendritic cells and microglia during an inflammatory reaction. In turn, 25HC acts on many immune cells, therefore it can modulate the course of the inflammatory reaction and prevent the penetration of viruses into cells. Data are accumulating about of the participation of 25HC in the regulation of synaptic transmission in both the central and peripheral nervous systems. Production of 25HC is increased not only during inflammation, but in a number of neurodegenerative diseases (Alzheimer's disease and amyotrophic lateral sclerosis), so this HC can be important, on the one hand, in the adaptation of synaptic activity to inflammatory conditions, and on the other in the pathogenesis of neurodegenerative diseases and the formation of synaptic dysfunctions. The main targets of 25HC in the nervous system are glutamate NMDA-receptors, liver X receptors and estrogen receptors. In addition, 25HC can directly influence on the properties of synaptic membranes by changing the formation of membrane microdomains (lipid rafts) where proteins are clustered that important for synaptic plasticity. Current data indicate that the effects of 25HC strongly depend on its concentration and the context (norm, pathology, presence of an inflammatory reaction) in which the effect of 25HC is being investigated. In this mini-review we focused on the key aspects of the action of 25HC as a local regulator of cholesterol homeostasis and a paracrine molecule that realize the effect of inflammation on neurotransmission processes in the central and peripheral nervous systems.
{"title":"Contribution of 25-hydroxycholesterol to the cross-interaction of the immune and nervous systems","authors":"Guzalia Zakyrjanova, Andrei Tsentsevitsky, Giniatullin Arthur, Sonia Madeleine Fogaing Nghomsi, Eva Kuznetsova, Alexey Petrov","doi":"10.23868/gc562791","DOIUrl":"https://doi.org/10.23868/gc562791","url":null,"abstract":"25-hydroxycholesterol (25HC) is produced from cholesterol by cholesterol-25-hydroxylase, the expression of which, like the level of 25HC, increases significantly in macrophages, dendritic cells and microglia during an inflammatory reaction. In turn, 25HC acts on many immune cells, therefore it can modulate the course of the inflammatory reaction and prevent the penetration of viruses into cells. Data are accumulating about of the participation of 25HC in the regulation of synaptic transmission in both the central and peripheral nervous systems. Production of 25HC is increased not only during inflammation, but in a number of neurodegenerative diseases (Alzheimer's disease and amyotrophic lateral sclerosis), so this HC can be important, on the one hand, in the adaptation of synaptic activity to inflammatory conditions, and on the other in the pathogenesis of neurodegenerative diseases and the formation of synaptic dysfunctions. The main targets of 25HC in the nervous system are glutamate NMDA-receptors, liver X receptors and estrogen receptors. In addition, 25HC can directly influence on the properties of synaptic membranes by changing the formation of membrane microdomains (lipid rafts) where proteins are clustered that important for synaptic plasticity. Current data indicate that the effects of 25HC strongly depend on its concentration and the context (norm, pathology, presence of an inflammatory reaction) in which the effect of 25HC is being investigated. In this mini-review we focused on the key aspects of the action of 25HC as a local regulator of cholesterol homeostasis and a paracrine molecule that realize the effect of inflammation on neurotransmission processes in the central and peripheral nervous systems.","PeriodicalId":12644,"journal":{"name":"Genes and Cells","volume":"39 2","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135325633","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Daria M. Kuzmina, Nina A. Eremeeva, Natalia A. Schelchkova, Irina V. Mukhina
Background. According to UNESCO data for 2018, every third student is involved in bullying. To study the impact of social conflicts the state of the nervous system the K.Micek model of chronic social stress was used, but the study of the effects of chronic social stress on prepubertal animals has not been conducted.
The aim of the study is to analyze the effect of chronic stress in infant age period to the behavioral phenotype of C57Bl/6 mice in early and long-term periods.
Materials and methods. The objects of the study were male C57Bl/6 mice, n=48. For bullying modeling we chose chronic social stress in infant age period according to the "resident-intruder" scheme. Mice were divided into two subgroups to study the early and long-term consequences of chronic social stress. For the behavioral phenotyping we used the following tests: open field test, three-chamber social test, object recognition test, passive avoidance task and Barnes maze.
Results. Bullying modeling led to the changes in the behavioral phenotype both in infant age and in adulthood. The behavioral phenotype in infant age period was characterized by increased social activity and recognition, high anxiety, decreased locomotor and exploratory activity, impaired recognition of inanimate objects, but good characteristics of learning, working and long-term memory. In adulthood, the behavioral phenotype of mice retained high anxiety, low level of exploratory activity, good learning and memory characteristics, decline in social recognition in three-chamber test, while the recognition of inanimate objects was preserved at the same level.
Conclusion. Chronic social stress in infant age in a mouse model of bullying causes disruption of the behavioral phenotype in infant and adult age. Features of the behavioral phenotype of mice after bullying were an increase in anxiety and social isolation against the background of the ability to learn and good memory.
{"title":"Behavioral phenotype of C57Bl/6 mice that endured bullying during infant age period","authors":"Daria M. Kuzmina, Nina A. Eremeeva, Natalia A. Schelchkova, Irina V. Mukhina","doi":"10.23868/gc546155","DOIUrl":"https://doi.org/10.23868/gc546155","url":null,"abstract":"Background. According to UNESCO data for 2018, every third student is involved in bullying. To study the impact of social conflicts the state of the nervous system the K.Micek model of chronic social stress was used, but the study of the effects of chronic social stress on prepubertal animals has not been conducted.
 The aim of the study is to analyze the effect of chronic stress in infant age period to the behavioral phenotype of C57Bl/6 mice in early and long-term periods.
 Materials and methods. The objects of the study were male C57Bl/6 mice, n=48. For bullying modeling we chose chronic social stress in infant age period according to the \"resident-intruder\" scheme. Mice were divided into two subgroups to study the early and long-term consequences of chronic social stress. For the behavioral phenotyping we used the following tests: open field test, three-chamber social test, object recognition test, passive avoidance task and Barnes maze.
 Results. Bullying modeling led to the changes in the behavioral phenotype both in infant age and in adulthood. The behavioral phenotype in infant age period was characterized by increased social activity and recognition, high anxiety, decreased locomotor and exploratory activity, impaired recognition of inanimate objects, but good characteristics of learning, working and long-term memory. In adulthood, the behavioral phenotype of mice retained high anxiety, low level of exploratory activity, good learning and memory characteristics, decline in social recognition in three-chamber test, while the recognition of inanimate objects was preserved at the same level.
 Conclusion. Chronic social stress in infant age in a mouse model of bullying causes disruption of the behavioral phenotype in infant and adult age. Features of the behavioral phenotype of mice after bullying were an increase in anxiety and social isolation against the background of the ability to learn and good memory.","PeriodicalId":12644,"journal":{"name":"Genes and Cells","volume":"93 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134909896","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Alexandr Dmitrievich Okhalnikov, Maria Sergeevna Gavrish, Alexey Alexandrovich Babaev
BACKGROUND: Aging is an inevitable and irreversible process associated with increased risk of developing various neurodegenerative diseases, one of which is Alzheimer's disease. Currently, the role of glial cells, in particular microglia, in the pathogenesis of Alzheimer's disease is being actively studied. However, only a few studies have correlated the morphological features of microglia and their spatial arrangement in relation to A plaques.
AIM: Describe the main morphological parameters of microglia in the 5xFAD mouse model of Alzheimer's disease at a late stage of pathology development.
METHODS: Mice from the 5xFAD line were studied as a model of rapid amyloidosis, at the age of 15-16 months. To study morphological diversity, an immunohistological analysis of cerebral cortex sections was performed with the help of ImageJ application using the Skeletonize, Analyze Skeleton (2D/3D) and FracLac plugins.
RESULTS: During the study, 5xFAD mice were divided into two groups. Carriers of the APP and PSEN1 transgenes were assigned to the "FAD" group, wild-type mice to the "Wt" group and were taken as controls, each group included 3 mice. From each mouse, we analyzed 3-4 sagittal sections (50m) of the brain to study the morphological features of microglia in the late stage of Alzheimer's disease. The results obtained showed that the microglial cells of mice with signs of Alzheimer's disease have a lower fractal dimension, lacunarity and branching.
CONCLUSION:. The presence of -amyloid plaques contributes to the migration of microglia to the focus of inflammation, its proliferation and transition to the phagocytic and dystrophic subtype. According to fractal analysis, there is a significant (p0.05) decrease in the average branching of microglial processes, a decrease in fractal dimension and lacunarity.
{"title":"Morphological features of microglial cells in a 5xFAD mouse model of Alzheimer's disease Authors","authors":"Alexandr Dmitrievich Okhalnikov, Maria Sergeevna Gavrish, Alexey Alexandrovich Babaev","doi":"10.23868/gc546020","DOIUrl":"https://doi.org/10.23868/gc546020","url":null,"abstract":"BACKGROUND: Aging is an inevitable and irreversible process associated with increased risk of developing various neurodegenerative diseases, one of which is Alzheimer's disease. Currently, the role of glial cells, in particular microglia, in the pathogenesis of Alzheimer's disease is being actively studied. However, only a few studies have correlated the morphological features of microglia and their spatial arrangement in relation to A plaques.
 AIM: Describe the main morphological parameters of microglia in the 5xFAD mouse model of Alzheimer's disease at a late stage of pathology development.
 METHODS: Mice from the 5xFAD line were studied as a model of rapid amyloidosis, at the age of 15-16 months. To study morphological diversity, an immunohistological analysis of cerebral cortex sections was performed with the help of ImageJ application using the Skeletonize, Analyze Skeleton (2D/3D) and FracLac plugins.
 RESULTS: During the study, 5xFAD mice were divided into two groups. Carriers of the APP and PSEN1 transgenes were assigned to the \"FAD\" group, wild-type mice to the \"Wt\" group and were taken as controls, each group included 3 mice. From each mouse, we analyzed 3-4 sagittal sections (50m) of the brain to study the morphological features of microglia in the late stage of Alzheimer's disease. The results obtained showed that the microglial cells of mice with signs of Alzheimer's disease have a lower fractal dimension, lacunarity and branching.
 CONCLUSION:. The presence of -amyloid plaques contributes to the migration of microglia to the focus of inflammation, its proliferation and transition to the phagocytic and dystrophic subtype. According to fractal analysis, there is a significant (p0.05) decrease in the average branching of microglial processes, a decrease in fractal dimension and lacunarity.","PeriodicalId":12644,"journal":{"name":"Genes and Cells","volume":"13 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135730691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
This article introduces the concept of a neurophysiological profile, which combines non-invasive neurophysiological markers in relation with molecular genetic characteristics and behavioral features. The development and implementation of this approach still requires efforts, but the examples of rare genetic syndromes associated with autism spectrum disorder presented in the article show the direction of movement. For the recently discovered Potoky-Lupski syndrome associated with disturbances in the 17p11.2 zone, a previously undescribed epileptiform activity was detected - saw-like hypersynchronization at a frequency of 13 Hz, which may indicate a certain type of disturbance in the excitation/inhibition balance in neural networks. For a rare case of microduplication in the SHANK3 gene, also associated with the Phelan-McDermid syndrome, a pathway from a violation in the functioning of the SHANK3 protein, through a distorted interaction of excitatory and inhibitory neurons, primarily associated with hypofunction of NMDA receptors on inhibitory neurons, to reduced temporal resolution auditory cortex, reflecting in the absence of response following 40 Hz auditory stimulation (40 Hz auditory steady-state response) and underlying problems in speech development was described. For Rett syndrome, which is caused by a mutation in the MECP2 gene, which has a very wide influence on many other genes, the neurophysiological findings are also diverse. Among the most promising are changes in sensorimotor rhythm, potentially associated with a key symptom of the disease - stereotyped hand movements, as well as more delayed latency of the main components of the event-related potentials, which can have a cascading effect on information processing and affect the perception of basic information, including speech. The results presented here can help not only to objectify the diagnosis of developmental disorders, but also to build a mechanistic chain from gene to behavior.
{"title":"Neurophysiological markers that links genes and behavior in humans: examples from rare genetic syndromes associated with autism spectrum disorders","authors":"Ольга Владимировна Сысоева","doi":"10.23868/gc567774","DOIUrl":"https://doi.org/10.23868/gc567774","url":null,"abstract":"This article introduces the concept of a neurophysiological profile, which combines non-invasive neurophysiological markers in relation with molecular genetic characteristics and behavioral features. The development and implementation of this approach still requires efforts, but the examples of rare genetic syndromes associated with autism spectrum disorder presented in the article show the direction of movement. For the recently discovered Potoky-Lupski syndrome associated with disturbances in the 17p11.2 zone, a previously undescribed epileptiform activity was detected - saw-like hypersynchronization at a frequency of 13 Hz, which may indicate a certain type of disturbance in the excitation/inhibition balance in neural networks. For a rare case of microduplication in the SHANK3 gene, also associated with the Phelan-McDermid syndrome, a pathway from a violation in the functioning of the SHANK3 protein, through a distorted interaction of excitatory and inhibitory neurons, primarily associated with hypofunction of NMDA receptors on inhibitory neurons, to reduced temporal resolution auditory cortex, reflecting in the absence of response following 40 Hz auditory stimulation (40 Hz auditory steady-state response) and underlying problems in speech development was described. For Rett syndrome, which is caused by a mutation in the MECP2 gene, which has a very wide influence on many other genes, the neurophysiological findings are also diverse. Among the most promising are changes in sensorimotor rhythm, potentially associated with a key symptom of the disease - stereotyped hand movements, as well as more delayed latency of the main components of the event-related potentials, which can have a cascading effect on information processing and affect the perception of basic information, including speech. The results presented here can help not only to objectify the diagnosis of developmental disorders, but also to build a mechanistic chain from gene to behavior.","PeriodicalId":12644,"journal":{"name":"Genes and Cells","volume":"68 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135730038","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Alena Popyvanova, Ekaterina Pomelova Pomelova, Dimitri Bredikhin, Maria Koriakina, Anna Shestakova, Evgeny Blagovechtchenski
BACKGROUND: Transspinal direct current stimulation (tsDCS) affects the corticospinal system (CSS), one of the central human systems associated with controlling precise voluntary movements. It is known, that the stimulation effects are very sensitive to montage and protocols of applied stimulation, because it can involve different neuronal mechanisms.
AIM: This study aimed to estimate the parameters of anodal tsDCS applied at the level of the cervical enlargement of the spinal cord (C7-Th1 segments) on the excitability of the CSS and the correction of motor skills in healthy people.
METHODS: The study involved 81 healthy adults aged 21.19 3.2 years. The effect of tsDCS was assessed using motor evoked potentials (MEP) from the first dorsal interosseous (FDI) muscle by transcranial magnetic stimulation in the primary motor cortex before stimulation, immediately after stimulation, and after 15 minutes.
RESULTS: Our results showed that the application of 11-minute anodal tsDCS at the level of the cervical spine C7-Th1 with a current of 1.5 mA affects the FDI muscle, initially reducing the amplitude of TMS-induced MEP immediately after stimulation. The amplitude of the MEP increases after 15 minutes of stimulation. tsDCS with intensity 2,5 mA does not affect the MEP's amplitude change. Similarly, we found no difference in the effect of 1.5 mA stimulation on the correction of motor skills in healthy adults at 9-HPT and SRT, as with 2.5 mA.
CONCLUSION: These results add information about optimally appropriate stimulation current intensities to induce CSS excitability and the ability of tsDCS to influence motor skills in healthy adults.
{"title":"THE INTENSITY OF TRANSSPINAL DIRECT CURRENT STIMULATION AFFECTS THE EXCITABILITY OF THE CORTICOSPINAL SYSTEM","authors":"Alena Popyvanova, Ekaterina Pomelova Pomelova, Dimitri Bredikhin, Maria Koriakina, Anna Shestakova, Evgeny Blagovechtchenski","doi":"10.23868/gc551818","DOIUrl":"https://doi.org/10.23868/gc551818","url":null,"abstract":"BACKGROUND: Transspinal direct current stimulation (tsDCS) affects the corticospinal system (CSS), one of the central human systems associated with controlling precise voluntary movements. It is known, that the stimulation effects are very sensitive to montage and protocols of applied stimulation, because it can involve different neuronal mechanisms. 
 AIM: This study aimed to estimate the parameters of anodal tsDCS applied at the level of the cervical enlargement of the spinal cord (C7-Th1 segments) on the excitability of the CSS and the correction of motor skills in healthy people. 
 METHODS: The study involved 81 healthy adults aged 21.19 3.2 years. The effect of tsDCS was assessed using motor evoked potentials (MEP) from the first dorsal interosseous (FDI) muscle by transcranial magnetic stimulation in the primary motor cortex before stimulation, immediately after stimulation, and after 15 minutes.
 RESULTS: Our results showed that the application of 11-minute anodal tsDCS at the level of the cervical spine C7-Th1 with a current of 1.5 mA affects the FDI muscle, initially reducing the amplitude of TMS-induced MEP immediately after stimulation. The amplitude of the MEP increases after 15 minutes of stimulation. tsDCS with intensity 2,5 mA does not affect the MEP's amplitude change. Similarly, we found no difference in the effect of 1.5 mA stimulation on the correction of motor skills in healthy adults at 9-HPT and SRT, as with 2.5 mA. 
 CONCLUSION: These results add information about optimally appropriate stimulation current intensities to induce CSS excitability and the ability of tsDCS to influence motor skills in healthy adults.","PeriodicalId":12644,"journal":{"name":"Genes and Cells","volume":"76 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136078614","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ekaterina Pomelova, Alyona Popyvanova, Dmitry Bredikhin, Maria Koriakina, Anna N. Shestakova, Evgeny D. Blagovechtchenski
BACKGROUND: Non-invasive brain stimulation is an effective way to affect movement production, including the spinal cord level. It is known, that the stimulation effects are very sensitive to montage and protocols of applied stimulation, because it can involve different neuronal mechanisms.
AIM: The purpose of the study was to estimate the effect of anodal transspinal direct current stimulation (tsDCS) with intensity 2,5 mA applied at the level of the cervical enlargement of the spinal cord (C7-Th1 segments) on the corticospinal system (CSS) excitability and motor skills.
METHODS: The study involved 54 healthy adults aged 21,19 3,2 years. The effect of tsDCS was assessed using motor evoked potentials (MEP) from the first dorsal interosseous (FDI) muscle by transcranial magnetic stimulation in the primary motor cortex before stimulation, immediately after stimulation, and after 15 minutes.
RESULTS: Our results showed that the application of an 11-minute anodal tsDCS at the level of the cervical spine C7-Th1 with a current value of 2.5 mA does not affect the MEP of FDI. The statistical analysis demonstrated that the dynamics of MEP amplitudes did not differ between groups receiving anodal tsDCS and sham stimulation. Also, anodal tsDCS did not affect motor skills. An individual's ability to coordinate fingers and manipulate objects effectively (a measure of dexterity) in 9-HPT, and pressing a key in response to a visual stimulus in SRT, did not differ from sham stimulation.
CONCLUSION: Therefore, it can be assumed that 2.5 mA anodal tsDCS on the cervical enlargement of the spinal cord does not affect the CSS excitability or change motor skills associated with precise hand movements.
{"title":"TRANS-SPINAL DIRECT CURRENT STIMULATION WITH INTENSITY 2,5 MA DOES NOT AFFECT THE CORTICOSPINAL SYSTEM EXCITABILITY AND MOTOR SKILLS","authors":"Ekaterina Pomelova, Alyona Popyvanova, Dmitry Bredikhin, Maria Koriakina, Anna N. Shestakova, Evgeny D. Blagovechtchenski","doi":"10.23868/gc545830","DOIUrl":"https://doi.org/10.23868/gc545830","url":null,"abstract":"BACKGROUND: Non-invasive brain stimulation is an effective way to affect movement production, including the spinal cord level. It is known, that the stimulation effects are very sensitive to montage and protocols of applied stimulation, because it can involve different neuronal mechanisms. 
 AIM: The purpose of the study was to estimate the effect of anodal transspinal direct current stimulation (tsDCS) with intensity 2,5 mA applied at the level of the cervical enlargement of the spinal cord (C7-Th1 segments) on the corticospinal system (CSS) excitability and motor skills. 
 METHODS: The study involved 54 healthy adults aged 21,19 3,2 years. The effect of tsDCS was assessed using motor evoked potentials (MEP) from the first dorsal interosseous (FDI) muscle by transcranial magnetic stimulation in the primary motor cortex before stimulation, immediately after stimulation, and after 15 minutes.
 RESULTS: Our results showed that the application of an 11-minute anodal tsDCS at the level of the cervical spine C7-Th1 with a current value of 2.5 mA does not affect the MEP of FDI. The statistical analysis demonstrated that the dynamics of MEP amplitudes did not differ between groups receiving anodal tsDCS and sham stimulation. Also, anodal tsDCS did not affect motor skills. An individual's ability to coordinate fingers and manipulate objects effectively (a measure of dexterity) in 9-HPT, and pressing a key in response to a visual stimulus in SRT, did not differ from sham stimulation. 
 CONCLUSION: Therefore, it can be assumed that 2.5 mA anodal tsDCS on the cervical enlargement of the spinal cord does not affect the CSS excitability or change motor skills associated with precise hand movements.","PeriodicalId":12644,"journal":{"name":"Genes and Cells","volume":"61 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135854308","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The brain has a high content of sphingomyelin, which is involved in the formation of plasma membranes and myelin, and is also an important for the organization of membrane microdomains (lipid rafts). Lipid rafts, as well as derivatives of sphingomyelin hydrolysis (ceramide, sphingosine, sphingosine-1-phosphate), are vital for synaptic transmission and its regulation. One of the main pathways to control the level of sphingomyelin and its derivatives is cleavage of membrane sphingomyelin by sphingomyelinases. Sphingomyelinases are localized inside the cell (in association with the plasma membrane, in lysosomes, endosomes, Golgi complex and endoplasmic reticulum) as well as can be secreted into the extracellular space. The levels of sphingomyelinases significantly increase under the action of various stressful stimuli (including inflammation). At the same time, sphingomyelinase activity deficiency causes diseases with severe neurological manifestations. In the present review, we summarized the data on the currently known effects of acidic and neutral sphingomyelinases on pre- and postsynaptic processes, as well as about the synaptic localization of sphingomyelinases. In addition, a brief analysis of possible synaptic disfunction due to hypo- or hyperfunction of sphingomyelinases in a number of neurological diseases is given. Thus, sphingomyelinases are considered as important modulators of synaptic transmission at the pre- and postsynaptic levels in normal and pathological conditions.
{"title":"Sphingomyelinases as modulators of synaptic transmission","authors":"Chulpan R Gafurova;, Alexey Petrov","doi":"10.23868/gc546062","DOIUrl":"https://doi.org/10.23868/gc546062","url":null,"abstract":"The brain has a high content of sphingomyelin, which is involved in the formation of plasma membranes and myelin, and is also an important for the organization of membrane microdomains (lipid rafts). Lipid rafts, as well as derivatives of sphingomyelin hydrolysis (ceramide, sphingosine, sphingosine-1-phosphate), are vital for synaptic transmission and its regulation. One of the main pathways to control the level of sphingomyelin and its derivatives is cleavage of membrane sphingomyelin by sphingomyelinases. Sphingomyelinases are localized inside the cell (in association with the plasma membrane, in lysosomes, endosomes, Golgi complex and endoplasmic reticulum) as well as can be secreted into the extracellular space. The levels of sphingomyelinases significantly increase under the action of various stressful stimuli (including inflammation). At the same time, sphingomyelinase activity deficiency causes diseases with severe neurological manifestations. In the present review, we summarized the data on the currently known effects of acidic and neutral sphingomyelinases on pre- and postsynaptic processes, as well as about the synaptic localization of sphingomyelinases. In addition, a brief analysis of possible synaptic disfunction due to hypo- or hyperfunction of sphingomyelinases in a number of neurological diseases is given. Thus, sphingomyelinases are considered as important modulators of synaptic transmission at the pre- and postsynaptic levels in normal and pathological conditions.","PeriodicalId":12644,"journal":{"name":"Genes and Cells","volume":"281 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135092664","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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