Pub Date : 2019-01-01DOI: 10.4172/1747-0862.1000407
Hasan Mj, R. Rabbani, B. Sc, Huq Smr
Background: Tigecycline (TGC) is a last resort antibiotic having broad spectrum antibacterial activity against gram-negative bacteria. Beyond its standard dosing regimen, a double dosing regimen has been practicing for last couple of years to achieve adequate drug concentration in the targeted body tissues. TGC interferes with the mitochondrial protein translation process and may lead to non-anion gap acute metabolic acidosis (NAGAMA) with low blood-pH level. The main objective of this retrospective study was to evaluate the frequency of high dose TGC-induced NAGAMA events in the South Asian critically ill patients. Methods: The retrospective data of 24 critically ill patients of an intensive care unit (ICU) were considered for this study. Patients of this study received high dose of TGC. Including all necessary laboratory data, patients’ anion gap, blood-pH level data in pre and post-TGC therapy were also recorded from the ICU’s clinical-record archive. All the data were analyzed to find out the significance of NAGAMA event with high dose TGC therapy. Results: Among the patients administered with high dose TGC, 45.83% (11; n=24) of patients were experienced with NAGAMA event and in every 2.18 patients, 1 patient developed this event. Among those 11 patients, 63.64% of patients were recovered within 24 hours after stopping the TGC therapy and the rest of the patients (36.36%) were recovered within 48 hours, where 4 patients required therapeutic intervention to overcome the NAGAMA event. Conclusion: High dose TGC-induced NAGAMA event is an unusual event, globally. Mitochondrial toxicity is a TGC-associated adverse event and the related NAGAMA is a detrimental clinical consequence. However, the complete mechanism of this event is even not fully clear but, caution should be taken in the use of high dose TGC mostly in the critically ill patients.
{"title":"High Dose Tigecycline-Induced Mitochondrial Dysfunction-Associated Acute Metabolic Acidosis: A Retrospective Study","authors":"Hasan Mj, R. Rabbani, B. Sc, Huq Smr","doi":"10.4172/1747-0862.1000407","DOIUrl":"https://doi.org/10.4172/1747-0862.1000407","url":null,"abstract":"Background: Tigecycline (TGC) is a last resort antibiotic having broad spectrum antibacterial activity against gram-negative bacteria. Beyond its standard dosing regimen, a double dosing regimen has been practicing for last couple of years to achieve adequate drug concentration in the targeted body tissues. TGC interferes with the mitochondrial protein translation process and may lead to non-anion gap acute metabolic acidosis (NAGAMA) with low blood-pH level. The main objective of this retrospective study was to evaluate the frequency of high dose TGC-induced NAGAMA events in the South Asian critically ill patients. Methods: The retrospective data of 24 critically ill patients of an intensive care unit (ICU) were considered for this study. Patients of this study received high dose of TGC. Including all necessary laboratory data, patients’ anion gap, blood-pH level data in pre and post-TGC therapy were also recorded from the ICU’s clinical-record archive. All the data were analyzed to find out the significance of NAGAMA event with high dose TGC therapy. Results: Among the patients administered with high dose TGC, 45.83% (11; n=24) of patients were experienced with NAGAMA event and in every 2.18 patients, 1 patient developed this event. Among those 11 patients, 63.64% of patients were recovered within 24 hours after stopping the TGC therapy and the rest of the patients (36.36%) were recovered within 48 hours, where 4 patients required therapeutic intervention to overcome the NAGAMA event. Conclusion: High dose TGC-induced NAGAMA event is an unusual event, globally. Mitochondrial toxicity is a TGC-associated adverse event and the related NAGAMA is a detrimental clinical consequence. However, the complete mechanism of this event is even not fully clear but, caution should be taken in the use of high dose TGC mostly in the critically ill patients.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"13 1","pages":"1-4"},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/1747-0862.1000407","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70955671","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}
Pub Date : 2019-01-01DOI: 10.4172/1747-0862.1000399
W. He, R. Xu, W. Li, G. Chen
With the development of surgical techniques and implementation of adjuvant chemotherapy, the outcomes for patients with locally advanced colon cancer are improved. The necessity of neoadjuvant treatment has led to increasing interest. This Mini review summarizes the progress in neoadjuvant chemoradiotherapy and neoadjuvant chemotherapy.
{"title":"Neoadjuvant Treatment for Locally Advanced Colon Cancer","authors":"W. He, R. Xu, W. Li, G. Chen","doi":"10.4172/1747-0862.1000399","DOIUrl":"https://doi.org/10.4172/1747-0862.1000399","url":null,"abstract":"With the development of surgical techniques and implementation of adjuvant chemotherapy, the outcomes for patients with locally advanced colon cancer are improved. The necessity of neoadjuvant treatment has led to increasing interest. This Mini review summarizes the progress in neoadjuvant chemoradiotherapy and neoadjuvant chemotherapy.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"585 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70955267","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}
Pub Date : 2019-01-01DOI: 10.4172/1747-0862.1000392
N. Afiqah‐Aleng, Mohamed-Hussein Za
Polycystic ovarian syndrome (PCOS) is an endocrine disorder that affects women at reproductive age. This syndrome gives rise to various consequences, from reproductive, dermatological, nervous and psychiatric problems to different features of metabolic syndrome. Due to the complexity of PCOS, candidate gene approaches are insufficient to understand its molecular mechanism. A systems biology approach that requires strong integration of experimental and computational biology to understand the complex biological systems could be used in examining multiple interacting genes and their products that lead to PCOS. This short communication discusses the available omics studies that have been conducted in PCOS.
{"title":"Computational Systems Biology Approach on Polycystic Ovarian Syndrome (PCOS)","authors":"N. Afiqah‐Aleng, Mohamed-Hussein Za","doi":"10.4172/1747-0862.1000392","DOIUrl":"https://doi.org/10.4172/1747-0862.1000392","url":null,"abstract":"Polycystic ovarian syndrome (PCOS) is an endocrine disorder that affects women at reproductive age. This syndrome gives rise to various consequences, from reproductive, dermatological, nervous and psychiatric problems to different features of metabolic syndrome. Due to the complexity of PCOS, candidate gene approaches are insufficient to understand its molecular mechanism. A systems biology approach that requires strong integration of experimental and computational biology to understand the complex biological systems could be used in examining multiple interacting genes and their products that lead to PCOS. This short communication discusses the available omics studies that have been conducted in PCOS.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"13 1","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70955205","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}
Pub Date : 2019-01-01DOI: 10.4172/1747-0862.1000413
Goit Ln, Y. Shaning, X. Wang
The Brugada syndrome is an autosomal dominant rare form of cardiac arrhythmia and has been associated with high risk of sudden cardiac death predominantly in younger male patients. It is associated with polymorphic ventricular arrhythmia/ventricular fibrillation, Supraventricular arrhythmia mainly atrial fibrillations and Wolf- Parkinson white syndrome. Patients can be presented with symptom like syncope, palpitation, sudden cardiac death and asymptomatically. Several pathogenic genes have been identified as associated with the disease but SCN5A is the most prevalent one. Several genetic mutations of different subunits of sodium, calcium and potassium channel have been involved. The management of Brugada syndrome and Wolf-Parkinson-White syndrome in patients with atrial fibrillation should be generally includes implantable cardioverter defibrillator and Radiofrequency catheter ablations. This brief review focuses on recent clinical diagnosis, genetic basis and advances in pharmacological treatment of Brugada syndromes with atrial fibrillation and wolf-Parkinson white syndrome.
{"title":"Atrial Fibrillation Associated with Wolf-Parkinson-White Syndrome in Patients with Brugada Syndrome: A Review","authors":"Goit Ln, Y. Shaning, X. Wang","doi":"10.4172/1747-0862.1000413","DOIUrl":"https://doi.org/10.4172/1747-0862.1000413","url":null,"abstract":"The Brugada syndrome is an autosomal dominant rare form of cardiac arrhythmia and has been associated with high risk of sudden cardiac death predominantly in younger male patients. It is associated with polymorphic ventricular arrhythmia/ventricular fibrillation, Supraventricular arrhythmia mainly atrial fibrillations and Wolf- Parkinson white syndrome. Patients can be presented with symptom like syncope, palpitation, sudden cardiac death and asymptomatically. Several pathogenic genes have been identified as associated with the disease but SCN5A is the most prevalent one. Several genetic mutations of different subunits of sodium, calcium and potassium channel have been involved. The management of Brugada syndrome and Wolf-Parkinson-White syndrome in patients with atrial fibrillation should be generally includes implantable cardioverter defibrillator and Radiofrequency catheter ablations. This brief review focuses on recent clinical diagnosis, genetic basis and advances in pharmacological treatment of Brugada syndromes with atrial fibrillation and wolf-Parkinson white syndrome.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"13 1","pages":"1-4"},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70956019","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}
Pub Date : 2019-01-01DOI: 10.4172/1747-0862.1000409
P. Severino, A. D’Amato, Mariateresa Pucci, M. Mariani, L. Netti, F. Infusino, M. Mancone, F. Fedele
Ischemic heart disease is the most common cause of death in both female and male genders. Though coronary artery disease is the most common determinant of ischemia in males, women present more often chest pain associated with normal epicardial coronary arteries. In females, coronary microvascular dysfunction plays a key role in developing symptoms and imbalance between delivery and request of coronary blood flow. Coronary ion channels play a major role in the regulation of coronary blood flow. According to the epidemiological, pathophysiological and clinical differences between male and female genders in ischemic heart diseases, it is legitimate to suspect the possible impact of gender on modulating the effect of cardiovascular risk factors. Whereas it is well known the role of estrogens in cardiovascular system, the role of genetics it has never been extensively addressed. Considering the high prevalence of coronary microvascular dysfunction in females and the regulatory function of coronary ion channels, we speculate that genetic differences in genes encoding the ion channels could be a major determinant of the difference in ischemic phenotypic expression among genders. Our previous study clearly shows that the single nucleotide polymorphism rs5215_GG of KCNJ11 gene encoding for coronary KATP channel is more prevalent in women and reduces the susceptibility to ischemic heart disease regardless the presence of other cardiovascular risk factors. This finding suggests a major role of genetics in the development of ischemic heart diseases and warrants further studies to evaluate the usefulness of genetic screening in clinical daily practice.
{"title":"Myocardial Ischemia in Women When Genetic Susceptibility Matters","authors":"P. Severino, A. D’Amato, Mariateresa Pucci, M. Mariani, L. Netti, F. Infusino, M. Mancone, F. Fedele","doi":"10.4172/1747-0862.1000409","DOIUrl":"https://doi.org/10.4172/1747-0862.1000409","url":null,"abstract":"Ischemic heart disease is the most common cause of death in both female and male genders. Though coronary artery disease is the most common determinant of ischemia in males, women present more often chest pain associated with normal epicardial coronary arteries. In females, coronary microvascular dysfunction plays a key role in developing symptoms and imbalance between delivery and request of coronary blood flow. Coronary ion channels play a major role in the regulation of coronary blood flow. According to the epidemiological, pathophysiological and clinical differences between male and female genders in ischemic heart diseases, it is legitimate to suspect the possible impact of gender on modulating the effect of cardiovascular risk factors. Whereas it is well known the role of estrogens in cardiovascular system, the role of genetics it has never been extensively addressed. Considering the high prevalence of coronary microvascular dysfunction in females and the regulatory function of coronary ion channels, we speculate that genetic differences in genes encoding the ion channels could be a major determinant of the difference in ischemic phenotypic expression among genders. Our previous study clearly shows that the single nucleotide polymorphism rs5215_GG of KCNJ11 gene encoding for coronary KATP channel is more prevalent in women and reduces the susceptibility to ischemic heart disease regardless the presence of other cardiovascular risk factors. This finding suggests a major role of genetics in the development of ischemic heart diseases and warrants further studies to evaluate the usefulness of genetic screening in clinical daily practice.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"13 1","pages":"1-6"},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70955810","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}
Pub Date : 2018-11-13DOI: 10.4172/1747-0862.1000376
S. Brooks
Cytokines are a class of pro-inflammatory immune responses in the peripheral and central nervous system. Elevated cytokine levels contribute to appetite and weight dysregulation, anxiety, depression and other psychiatric conditions, and may underlie eating disorder (ED). Recently, two meta-analyses of cytokine levels in people with EDs – particularly anorexia nervosa (AN) – confirm elevated levels of cytokines within the 5-LOX inflammatory pathway, namely interleukin 1 (IL-1), interleukin 6 (IL-6) and tumour necrosis factor alpha (TNF-α). IL-1, IL-6 and TNF-α are leukotrienes that stimulate the prolonged response of nuclear factor kappa beta (NF-κβ) – the major inflammatory gateway molecule – which influences brain development and function within the hypothalamicpituitary- adrenal (HPA) axis, hippocampus and prefrontal cortex. The structure and function of these brain areas are shown to be aberrant in neuroimaging studies of EDs; thus, neuroinflammatory processes are significant biomarkers for weight and cognitive disturbances in EDs, particularly AN. Against this background, this brief article summarises the current knowledge of IL-1, IL-6 and TNF-α in EDs. Thereafter, the significance of inhibiting the NF-κβ 5-LOX inflammatory pathway with a low-risk, Cochrane-reviewed, anti-inflammatory known as Boswellia serrata is considered. Brief discussion of the clinical role for Boswellia serrata in weight recovery and reduction of comorbid mental disorder in ED is provided to stimulate further research into natural anti-inflammatory treatment interventions.
{"title":"Targeting cytokines in the 5-Lox pro-inflammatory pathway for treatment-resistant anorexia nervosa","authors":"S. Brooks","doi":"10.4172/1747-0862.1000376","DOIUrl":"https://doi.org/10.4172/1747-0862.1000376","url":null,"abstract":"Cytokines are a class of pro-inflammatory immune responses in the peripheral and central nervous system. Elevated cytokine levels contribute to appetite and weight dysregulation, anxiety, depression and other psychiatric conditions, and may underlie eating disorder (ED). Recently, two meta-analyses of cytokine levels in people with EDs – particularly anorexia nervosa (AN) – confirm elevated levels of cytokines within the 5-LOX inflammatory pathway, namely interleukin 1 (IL-1), interleukin 6 (IL-6) and tumour necrosis factor alpha (TNF-α). IL-1, IL-6 and TNF-α are leukotrienes that stimulate the prolonged response of nuclear factor kappa beta (NF-κβ) – the major inflammatory gateway molecule – which influences brain development and function within the hypothalamicpituitary- adrenal (HPA) axis, hippocampus and prefrontal cortex. The structure and function of these brain areas are shown to be aberrant in neuroimaging studies of EDs; thus, neuroinflammatory processes are significant biomarkers for weight and cognitive disturbances in EDs, particularly AN. Against this background, this brief article summarises the current knowledge of IL-1, IL-6 and TNF-α in EDs. Thereafter, the significance of inhibiting the NF-κβ 5-LOX inflammatory pathway with a low-risk, Cochrane-reviewed, anti-inflammatory known as Boswellia serrata is considered. Brief discussion of the clinical role for Boswellia serrata in weight recovery and reduction of comorbid mental disorder in ED is provided to stimulate further research into natural anti-inflammatory treatment interventions.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/1747-0862.1000376","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47342401","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}
Pub Date : 2018-10-09DOI: 10.4172/1747-0862-c3-031
A. Klein
{"title":"Uncovering modifier genes for therapeutic target identification in rare diseases: Application of mouse and human genetics","authors":"A. Klein","doi":"10.4172/1747-0862-c3-031","DOIUrl":"https://doi.org/10.4172/1747-0862-c3-031","url":null,"abstract":"","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47325953","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}
Pub Date : 2018-10-09DOI: 10.4172/1747-0862-C3-030
pSadia Ajazp
Two complementary goals of biological research are to understand how each organism works and how that relates to other organisms. Specifically, the function of all genes and non-genes (i.e., all the regions of a genome that do not code for any genes) of each organism and how its genes and non-genes compare with those of other organisms. The progress in DNA sequencing has generated large amounts of sequence data, and many computer programs have been developed to interpret these data, especially in identifying and analyzing the similarities among genes and genomes. Unfortunately, in the zeal of finding similarities, the differences among genes and genomes are often not just simply ignored, but intentionally masked, trimmed, or filtered. With the increase in the number of genes or organisms being compared, the deleted data increase exponentially.
{"title":"Germ-line mutanome profiling of the Breast cancers in Pakistani population","authors":"pSadia Ajazp","doi":"10.4172/1747-0862-C3-030","DOIUrl":"https://doi.org/10.4172/1747-0862-C3-030","url":null,"abstract":"Two complementary goals of biological research are to understand how each organism works and how that relates to other organisms. Specifically, the function of all genes and non-genes (i.e., all the regions of a genome that do not code for any genes) of each organism and how its genes and non-genes compare with those of other organisms. The progress in DNA sequencing has generated large amounts of sequence data, and many computer programs have been developed to interpret these data, especially in identifying and analyzing the similarities among genes and genomes. Unfortunately, in the zeal of finding similarities, the differences among genes and genomes are often not just simply ignored, but intentionally masked, trimmed, or filtered. With the increase in the number of genes or organisms being compared, the deleted data increase exponentially.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70961935","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}
Pub Date : 2018-10-09DOI: 10.4172/1747-0862-C3-029
pM Eileen Dolanp
{"title":"Role of Pharmacogenomics in identifying cancer survivors at risk for adverse, persistent toxicities","authors":"pM Eileen Dolanp","doi":"10.4172/1747-0862-C3-029","DOIUrl":"https://doi.org/10.4172/1747-0862-C3-029","url":null,"abstract":"","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70961860","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}
Pub Date : 2018-08-24DOI: 10.4172/1747-0862.1000359
A. Amirian, M. Karimipoor, Zahra Zafari, M. Kallhor, M. Dalili, S. Saber, A. Fazelifar, S. Zeinali
Background: Long QT syndrome is a cardiac ion channelopathy characterized by corrected QT interval prolongation on electrocardiograms, leading to syncope and sudden death. Methods: In this study, the genetic screening of four Iranian LQTS families, including two Romano Ward syndrome families and two families with Jervell and Lange‐Nielsen syndrome, was performed by Sanger sequencing and haplotype analysis for three of the most common LQTS genes, KCNQ1, KCNH2 and SCN5A. Results: A de novo mutation c.1838C>T in the KCNH2 gene associated with LQTS2 was identified in a RWS family. A homozygous mutation c.477+5G>A was found in the KCNQ1 of the two JLNS families, and a novel recessive KCNQ1 variant c.934A>T (p.T312S) was identified in the KCNQ1 of another RWS family. The structural, functional and pathogenicity evaluation of the novel KCNQ1 missense variant by in silico predictive programs along with the segregation and population studies revealed that the variant was a likely pathogenic mutation. Conclusion: To the best of our knowledge, p.T312S is the first mutation identified for an AR-RWS family in the Iranian families. This assay can be used to screen individuals to provide useful information for the identification of the LQTS in the Iranian population. It is yet to be proven that the detection of different types of LQT will result in a more effective therapy.
{"title":"Molecular Analysis of KCNQ1, KCNH2 and SCN5A Genes in Iranian Patients with Long QT Syndrome","authors":"A. Amirian, M. Karimipoor, Zahra Zafari, M. Kallhor, M. Dalili, S. Saber, A. Fazelifar, S. Zeinali","doi":"10.4172/1747-0862.1000359","DOIUrl":"https://doi.org/10.4172/1747-0862.1000359","url":null,"abstract":"Background: Long QT syndrome is a cardiac ion channelopathy characterized by corrected QT interval prolongation on electrocardiograms, leading to syncope and sudden death. Methods: In this study, the genetic screening of four Iranian LQTS families, including two Romano Ward syndrome families and two families with Jervell and Lange‐Nielsen syndrome, was performed by Sanger sequencing and haplotype analysis for three of the most common LQTS genes, KCNQ1, KCNH2 and SCN5A. Results: A de novo mutation c.1838C>T in the KCNH2 gene associated with LQTS2 was identified in a RWS family. A homozygous mutation c.477+5G>A was found in the KCNQ1 of the two JLNS families, and a novel recessive KCNQ1 variant c.934A>T (p.T312S) was identified in the KCNQ1 of another RWS family. The structural, functional and pathogenicity evaluation of the novel KCNQ1 missense variant by in silico predictive programs along with the segregation and population studies revealed that the variant was a likely pathogenic mutation. Conclusion: To the best of our knowledge, p.T312S is the first mutation identified for an AR-RWS family in the Iranian families. This assay can be used to screen individuals to provide useful information for the identification of the LQTS in the Iranian population. It is yet to be proven that the detection of different types of LQT will result in a more effective therapy.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"12 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/1747-0862.1000359","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44459859","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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