V.T.H. Trang, T.V. Anh, T.T. Lien, V.H. Khanh, N.T. Duong, N.T. Nhung, N.A. Thu, T.D. Khanh
.
{"title":"Evaluating allelopathic potential of Piper lolot under different screening conditions","authors":"V.T.H. Trang, T.V. Anh, T.T. Lien, V.H. Khanh, N.T. Duong, N.T. Nhung, N.A. Thu, T.D. Khanh","doi":"10.12988/asb.2023.91756","DOIUrl":"https://doi.org/10.12988/asb.2023.91756","url":null,"abstract":".","PeriodicalId":7194,"journal":{"name":"Advanced Studies in Biology","volume":"36 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134887497","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 effect of blue and red light on the relative humidity of leaves, on the content of photosynthetic pigments, the activity of photosystem 2, the amount of proteins and soluble carbohydrates in tomato leaves was studied. Photosynthetic pigments were determined by homogenizing leaves in 96% ethanol, then centrifuged at 200 g and in a spectrophotometer with wavelengths of 665, 649, and 440.5 nm. The amount of dissolved sugar was determined by the accelerated dichromate method at a wavelength of 630-570 nm. The amount of protein was determined on SP 2000 spectrophotometers at wavelengths of 230 and 260 nm . Studies have shown that in all varieties of tomatoes grown in red light, there is a slight decrease in the amount of protein during exposure to red light, an increase in the amount of photosynthetic pigments and soluble carbohydrates. In the leaves of all studied plants, an increase in carbohydrate content was noted under red light, while blue light stimulated protein synthesis in tomato leaves.
{"title":"Influence of blue and red light on physiological and biochemical indicators of tomato plants","authors":"K. Z. Hasanova","doi":"10.12988/asb.2023.91606","DOIUrl":"https://doi.org/10.12988/asb.2023.91606","url":null,"abstract":"The effect of blue and red light on the relative humidity of leaves, on the content of photosynthetic pigments, the activity of photosystem 2, the amount of proteins and soluble carbohydrates in tomato leaves was studied. Photosynthetic pigments were determined by homogenizing leaves in 96% ethanol, then centrifuged at 200 g and in a spectrophotometer with wavelengths of 665, 649, and 440.5 nm. The amount of dissolved sugar was determined by the accelerated dichromate method at a wavelength of 630-570 nm. The amount of protein was determined on SP 2000 spectrophotometers at wavelengths of 230 and 260 nm . Studies have shown that in all varieties of tomatoes grown in red light, there is a slight decrease in the amount of protein during exposure to red light, an increase in the amount of photosynthetic pigments and soluble carbohydrates. In the leaves of all studied plants, an increase in carbohydrate content was noted under red light, while blue light stimulated protein synthesis in tomato leaves.","PeriodicalId":7194,"journal":{"name":"Advanced Studies in Biology","volume":"65 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83450423","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 explains the merits and significance of the “gene maturation clock’. In addition an attempt is made to resolve the complexities and confusions of the original article. This includes “0” to “100% clockwise direction”, “100” to 0% anticlockwise”, “silent condition” and “On” and “Off” conditions. The resulting features of these four conditions are described in great detail here. The previous article explained that when a clockwise movement occurs (when a gene moves from 0 percent to 100 percent) a particular quality increases over time. The article goes on to say that this is a positive movement in living things. But this article tries to explain that this kind of movement is not always good for living things. The second condition is that a specific quality decreases over time when an anticlockwise movement occurs (when a gene moves from 100 percent to Zero percent). The article goes on to say that this is a negative movement in living things. But this article tries to explain that this kind of movement is not always negative for living things. The third condition is the silent condition. This only happens after a particular character has reached one hundred percent. This is, if the gene continues to move clockwise even after reaching 100%, it will go directly 0%. As a result, that particular trait disappears very quickly from a person. Fourth, the article describes two situations, i.e. “On” and “Off” conditions. Both of these situations will be after a particular character reaches one hundred percent. If the gene transfer takes will not be passed on to the next generation. But if the gene is passed on in the “On” state, that particular trait can be passed on to the next generation. But overtime, that particular trait is likely to diminish. This article describes it in great detail. All four of these conditions can be experienced as good or bad in individuals in one way or another. That is, the outcome depends on the “behaviour” that can be transmitted. With this theory, we can understand how much a person’s behavior will change in the future. More precisely, if we observe the previous two or three generations of person, we can know for sure whether a trait that existed in that person at that time will increase or decrease. An example of this is the ability of the father of a famous singer to sing and the different abilities of his two children. The famous singer is more talented than his father, but one of his two sons sings well, but the other son does not want to sing. This article explains the reasons for these differences. Furthermore, the section describing the significance of this article in detail and it relates to a person’s life.
{"title":"Significance of the theoretical concept of ``Gene Maturation Clock'' and Attempts to further clarify it","authors":"R. Santhoshkumar","doi":"10.12988/asb.2022.91456","DOIUrl":"https://doi.org/10.12988/asb.2022.91456","url":null,"abstract":"This article explains the merits and significance of the “gene maturation clock’. In addition an attempt is made to resolve the complexities and confusions of the original article. This includes “0” to “100% clockwise direction”, “100” to 0% anticlockwise”, “silent condition” and “On” and “Off” conditions. The resulting features of these four conditions are described in great detail here. The previous article explained that when a clockwise movement occurs (when a gene moves from 0 percent to 100 percent) a particular quality increases over time. The article goes on to say that this is a positive movement in living things. But this article tries to explain that this kind of movement is not always good for living things. The second condition is that a specific quality decreases over time when an anticlockwise movement occurs (when a gene moves from 100 percent to Zero percent). The article goes on to say that this is a negative movement in living things. But this article tries to explain that this kind of movement is not always negative for living things. The third condition is the silent condition. This only happens after a particular character has reached one hundred percent. This is, if the gene continues to move clockwise even after reaching 100%, it will go directly 0%. As a result, that particular trait disappears very quickly from a person. Fourth, the article describes two situations, i.e. “On” and “Off” conditions. Both of these situations will be after a particular character reaches one hundred percent. If the gene transfer takes will not be passed on to the next generation. But if the gene is passed on in the “On” state, that particular trait can be passed on to the next generation. But overtime, that particular trait is likely to diminish. This article describes it in great detail. All four of these conditions can be experienced as good or bad in individuals in one way or another. That is, the outcome depends on the “behaviour” that can be transmitted. With this theory, we can understand how much a person’s behavior will change in the future. More precisely, if we observe the previous two or three generations of person, we can know for sure whether a trait that existed in that person at that time will increase or decrease. An example of this is the ability of the father of a famous singer to sing and the different abilities of his two children. The famous singer is more talented than his father, but one of his two sons sings well, but the other son does not want to sing. This article explains the reasons for these differences. Furthermore, the section describing the significance of this article in detail and it relates to a person’s life.","PeriodicalId":7194,"journal":{"name":"Advanced Studies in Biology","volume":"46 4 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90044155","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}
Disporopsis longifolia Craib is a valuable medicinal plant and has been recorded in the Red Data Book in many countries, including Vietnam. Fifteen samples of Disporopsis (leaves and tubers) were collected in the fifteen different communes of five districts in Ha Giang province. The samples were sequenced by amplifying the trnH-psbA locus in the chloroplast. All sequence data were compared with the reference genes published in NCBI. The results showed a significantly high genetic similarity among the fifteen samples, ranging from 98.5%-100%. The genetic similarity factors also ranged from 96.67- 97.48% with reference sample KJ745836.1- D.longifolia, which had been published data. Fifteen samples and references were divided into two main groups. This result shows a close relationship between the studied samples of Disporopsis with the genus D.longifolia . The main chemical components of this species were initially identified, including polysaccha-86 rides, saponins and amino acids. The total polysaccharide content calculated by glucose ranges from 6.94% to 24.0%. This is considerably useful for the conservation, exploitation and effective use of this precious genetic resource in Vietnam.
{"title":"Evaluating genetic diversity and chemical substances of Disporopsis longifolia craib samples collected in Vietnam","authors":"T. T. Hà","doi":"10.12988/asb.2022.91587","DOIUrl":"https://doi.org/10.12988/asb.2022.91587","url":null,"abstract":"Disporopsis longifolia Craib is a valuable medicinal plant and has been recorded in the Red Data Book in many countries, including Vietnam. Fifteen samples of Disporopsis (leaves and tubers) were collected in the fifteen different communes of five districts in Ha Giang province. The samples were sequenced by amplifying the trnH-psbA locus in the chloroplast. All sequence data were compared with the reference genes published in NCBI. The results showed a significantly high genetic similarity among the fifteen samples, ranging from 98.5%-100%. The genetic similarity factors also ranged from 96.67- 97.48% with reference sample KJ745836.1- D.longifolia, which had been published data. Fifteen samples and references were divided into two main groups. This result shows a close relationship between the studied samples of Disporopsis with the genus D.longifolia . The main chemical components of this species were initially identified, including polysaccha-86 rides, saponins and amino acids. The total polysaccharide content calculated by glucose ranges from 6.94% to 24.0%. This is considerably useful for the conservation, exploitation and effective use of this precious genetic resource in Vietnam.","PeriodicalId":7194,"journal":{"name":"Advanced Studies in Biology","volume":"2 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88744252","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}
Mushrooms have different genera that exhibit diversity in shapes, colors, and functional and biological characteristics. Mushroom is a nutrient-rich and high food value, especially the species belonging to Boletus Dill. ex Fr. The objective of the study is to investigate the species of this genus in Chu Yang Sin National Park, Daklak, Vietnam to disseminate to the community important nutritional value and ensure sustainable use of the natural resources. Our findings recorded 9 species of Boletus Dill including ex Fr. B.edulis Rostk. 1838, B. queletii Schulzer 1885, B.impolitus Fr. 1838, B.regius Krombh. 1832, B.venturii Bon 1986, B.coniferarum Lebedeva 1949; B.legaliae 1985, B.luridus in the rainy season (from May to November), with less growth in the dry season, under thick grass and thick humus layer with high humidity.
{"title":"Species diversity of Boletus Dill. ex Fr in Chu Yang Sin, National Park, Dak Lak, Vietnam","authors":"T. Khanh","doi":"10.12988/asb.2022.91408","DOIUrl":"https://doi.org/10.12988/asb.2022.91408","url":null,"abstract":"Mushrooms have different genera that exhibit diversity in shapes, colors, and functional and biological characteristics. Mushroom is a nutrient-rich and high food value, especially the species belonging to Boletus Dill. ex Fr. The objective of the study is to investigate the species of this genus in Chu Yang Sin National Park, Daklak, Vietnam to disseminate to the community important nutritional value and ensure sustainable use of the natural resources. Our findings recorded 9 species of Boletus Dill including ex Fr. B.edulis Rostk. 1838, B. queletii Schulzer 1885, B.impolitus Fr. 1838, B.regius Krombh. 1832, B.venturii Bon 1986, B.coniferarum Lebedeva 1949; B.legaliae 1985, B.luridus in the rainy season (from May to November), with less growth in the dry season, under thick grass and thick humus layer with high humidity.","PeriodicalId":7194,"journal":{"name":"Advanced Studies in Biology","volume":"5 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84075079","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}
With the growing exercises of structurofunctional network attributes as potential indicators for disease brains, an effective representation and assessments have become important. Eigenvector centrality characterization of functional MRI (fMRI) networks permits node wise graph theoretical representations as brain diagnostic charts. This article analyses adequacy of node centrality measures to perform group difference studies in neuroimaging data.
{"title":"Graph-theoretic characterization on differentiation between normal healthy and autism spectrum disorder (ASD) subjects","authors":"P. Saha","doi":"10.12988/asb.2022.91451","DOIUrl":"https://doi.org/10.12988/asb.2022.91451","url":null,"abstract":"With the growing exercises of structurofunctional network attributes as potential indicators for disease brains, an effective representation and assessments have become important. Eigenvector centrality characterization of functional MRI (fMRI) networks permits node wise graph theoretical representations as brain diagnostic charts. This article analyses adequacy of node centrality measures to perform group difference studies in neuroimaging data.","PeriodicalId":7194,"journal":{"name":"Advanced Studies in Biology","volume":"29 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85481255","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 Philippines is part of the Coral Triangle, which is thought to be a biodiversity hotspot for marine life, including Conus species. However, this region also has the highest data gaps, particularly in the north-eastern region of Mindanao. Ayoke Island lies at the edge of the Pacific Ocean in Cantilan, Surigao del Sur, North Eastern part of Minadanao, Philippines. Cone snails are distinctive marine animals with growing significance in biomedical research and study due to their conopeptides or conotoxins. This study aimed to account the species of Conidae; Fleming, 1822Family in Ayoke Island. Purposive sampling was employed. Three sampling sites were established. The specimens, both live and fossilized, were collected from the sampling sites by hand-picking during low tide and gleaning, as well as from some locals' collections. Only those that belong to Conidae family were scored. A total of four hundred sixteen (416) cone shells comprising thirty one (31) species belonging to Conidae; Fleming, 1822 family were scored and accounted. Based from the relative abundance, two (2) species namely, Conus frigidus Reeve, 1848 and Conus retifer Menke, 1829 were uncommon in the sampling stations. The remaining twenty nine (29) species were all occasional.
{"title":"Preliminary survey of Conidae; Fleming, 1822Family of Ayoke Island, North Eastern Mindanao, Philippines","authors":"A. Acevedo, Virginia B. Gruyal","doi":"10.12988/asb.2022.91589","DOIUrl":"https://doi.org/10.12988/asb.2022.91589","url":null,"abstract":"The Philippines is part of the Coral Triangle, which is thought to be a biodiversity hotspot for marine life, including Conus species. However, this region also has the highest data gaps, particularly in the north-eastern region of Mindanao. Ayoke Island lies at the edge of the Pacific Ocean in Cantilan, Surigao del Sur, North Eastern part of Minadanao, Philippines. Cone snails are distinctive marine animals with growing significance in biomedical research and study due to their conopeptides or conotoxins. This study aimed to account the species of Conidae; Fleming, 1822Family in Ayoke Island. Purposive sampling was employed. Three sampling sites were established. The specimens, both live and fossilized, were collected from the sampling sites by hand-picking during low tide and gleaning, as well as from some locals' collections. Only those that belong to Conidae family were scored. A total of four hundred sixteen (416) cone shells comprising thirty one (31) species belonging to Conidae; Fleming, 1822 family were scored and accounted. Based from the relative abundance, two (2) species namely, Conus frigidus Reeve, 1848 and Conus retifer Menke, 1829 were uncommon in the sampling stations. The remaining twenty nine (29) species were all occasional.","PeriodicalId":7194,"journal":{"name":"Advanced Studies in Biology","volume":"28 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86746678","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 Spike protein as a whole and Receptor Binding Region in particular are the main molecules which participate in the process of attachment and internalization of SARS-CoV-2 into human cells. Detailed study of physical and chemical changes in spike protein of SARS-CoV-2 from Wuhan to Omicron strains is needed for the public health and therapeutic utility. Amino acid sequences of all strains of novel coronavirus (Wuhan, alpha, beta, delta, gamma and omicron) were studied and analysed using software, Clustal Omega. Present paper reports analysis of all mutations in the Spike protein of different strains focusing on the chemical and physical interaction of the amino acids of RBD of Spike Protein with amino acids of ACE-2 receptor, to explain basis of transmissibility and clinical severity of viral strains. We report how potential based affinity of Spike protein and host ACE-2 receptor has affected the virus-host attachment and that how hydrophobicity of amino acids in the RBD region will affect the internalization of virus molecule into host cells.
{"title":"Study of surface potential and hydrophobicity of amino acids in mutated spike proteins of variants of SARS-CoV-2 and its impact on attachment and internalization of virus with human host cells","authors":"Ambreen S Khan, B. Angel, Annette Angel et al","doi":"10.12988/asb.2022.91457","DOIUrl":"https://doi.org/10.12988/asb.2022.91457","url":null,"abstract":"The Spike protein as a whole and Receptor Binding Region in particular are the main molecules which participate in the process of attachment and internalization of SARS-CoV-2 into human cells. Detailed study of physical and chemical changes in spike protein of SARS-CoV-2 from Wuhan to Omicron strains is needed for the public health and therapeutic utility. Amino acid sequences of all strains of novel coronavirus (Wuhan, alpha, beta, delta, gamma and omicron) were studied and analysed using software, Clustal Omega. Present paper reports analysis of all mutations in the Spike protein of different strains focusing on the chemical and physical interaction of the amino acids of RBD of Spike Protein with amino acids of ACE-2 receptor, to explain basis of transmissibility and clinical severity of viral strains. We report how potential based affinity of Spike protein and host ACE-2 receptor has affected the virus-host attachment and that how hydrophobicity of amino acids in the RBD region will affect the internalization of virus molecule into host cells.","PeriodicalId":7194,"journal":{"name":"Advanced Studies in Biology","volume":"185 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72698504","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 objectives expected by the company are essentially those of identifying a new approach to the accelerated determination of the shelf life of products intended for human consumption and more precisely for the confectionery sector, developing new methods currently not present in the sector and in the literature. The aim of the project is to develop and test an accelerated model for determining the shelf life on confectionery products. In the research, methods and methods were therefore used in a planned way, with records of both the process followed by the results that led to the development of new models that could then be put on the market in the following years. As regards the results obtained by the company, while the codification of knowledge and its dissemination are part of the usual practice in universities and research institutes (although there may be restrictions on knowledge deriving from contract work or in the context of a collaboration), in the commercial sphere the results will be protected by secrecy or other means of intellectual property protection. However, the process and results are expected to be recorded for use by other researchers and employees of the company.
{"title":"Shelf life accelerated for the confectionery sector: new protocol","authors":"E. Fanelli, C. Chelli, R. Tosi","doi":"10.12988/asb.2022.91452","DOIUrl":"https://doi.org/10.12988/asb.2022.91452","url":null,"abstract":"The objectives expected by the company are essentially those of identifying a new approach to the accelerated determination of the shelf life of products intended for human consumption and more precisely for the confectionery sector, developing new methods currently not present in the sector and in the literature. The aim of the project is to develop and test an accelerated model for determining the shelf life on confectionery products. In the research, methods and methods were therefore used in a planned way, with records of both the process followed by the results that led to the development of new models that could then be put on the market in the following years. As regards the results obtained by the company, while the codification of knowledge and its dissemination are part of the usual practice in universities and research institutes (although there may be restrictions on knowledge deriving from contract work or in the context of a collaboration), in the commercial sphere the results will be protected by secrecy or other means of intellectual property protection. However, the process and results are expected to be recorded for use by other researchers and employees of the company.","PeriodicalId":7194,"journal":{"name":"Advanced Studies in Biology","volume":"40 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88610514","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}
Maple syrup urine disease (MSUD) is a complicated disease that is inherited one. The maple syrup urine disease is accompanied with full or partial disorder of enzyme activity, participating in the metabolism of three amino acids as valine, leucine and isoleucine. If the process of valine, leucine and isoleucine metabolism is interrupted, then stockpiling and decay happens in the body. Decay products of those amino acids are evacuated from the body and are toxic. These toxins relate to biogenic amines – ptomaine. The presence of maple syrup metabolic disorder by biochemical and molecular genetic methods in Azerbaijan population confirms the importance of screening test of newborns for the respective disease. Homozygous substitution of adenine by guanine mutation has been found in DBT (dihydrolipoamide branched-chain transacylase) gene at 1199 nucleotide position (p. N400S 1199 A (Adenine) G (Guanine)). No mutations were identified in BCKDHA (branched-chain keto acid dehydrogenase E1, alpha polypeptide) and 2 Huseynova Lala Samaddin and Hagverdiyeva Raya Rustam BCKDHB (branched-chain keto acid dehydrogenase E1, beta polypeptide) genes. The identified mutation (1199 A (Adenine)-G (Guanine)) is a new mutation and has not been included in any literature. This mutation disrupts the metabolism of Valine, Leucine and Isoleucine amino acids and leads to maple syrup disease. For the diagnosis of maple syrup metabolic disorder the amount of valine, leucine and isoleucine amino acids was evaluated in the urine and plasma and the comparison of obtained results revealed that plasma analysis was more informative.
枫糖浆尿病(MSUD)是一种复杂的遗传性疾病。枫糖浆尿病伴酶活性全部或部分紊乱，参与缬氨酸、亮氨酸和异亮氨酸三种氨基酸的代谢。如果缬氨酸、亮氨酸和异亮氨酸的代谢过程被打断，那么体内就会发生储存和衰变。这些氨基酸的腐烂产物被排出体外，是有毒的。这些毒素与生物胺-尸胺有关。通过生化和分子遗传学方法在阿塞拜疆人口中存在枫糖浆代谢紊乱，证实了对新生儿进行相应疾病筛查试验的重要性。在双氢脂酰胺支链转酰基酶(DBT)基因1199个核苷酸位置发现了腺嘌呤被鸟嘌呤突变纯合取代(p. N400S 1199 A (adenine) G (guanine))。BCKDHA(支链酮酸脱氢酶E1， α多肽)和2个Huseynova Lala Samaddin和Hagverdiyeva Raya Rustam BCKDHB(支链酮酸脱氢酶E1， β多肽)基因未发现突变。所鉴定的突变(1199 A(腺嘌呤)-G(鸟嘌呤))是一种新的突变，尚未在任何文献中被纳入。这种突变破坏了缬氨酸、亮氨酸和异亮氨酸氨基酸的代谢，导致枫糖浆病。在枫糖代谢紊乱的诊断中，测定了尿和血浆中缬氨酸、亮氨酸和异亮氨酸的含量，并与所获得的结果进行了比较，结果表明血浆分析更有价值。
{"title":"A novel mutation in the DBT gene causes in an Azerbaijanian child classic maple syrup urine disease","authors":"L. Huseynova, R. Hagverdiyeva","doi":"10.12988/asb.2022.91403","DOIUrl":"https://doi.org/10.12988/asb.2022.91403","url":null,"abstract":"Maple syrup urine disease (MSUD) is a complicated disease that is inherited one. The maple syrup urine disease is accompanied with full or partial disorder of enzyme activity, participating in the metabolism of three amino acids as valine, leucine and isoleucine. If the process of valine, leucine and isoleucine metabolism is interrupted, then stockpiling and decay happens in the body. Decay products of those amino acids are evacuated from the body and are toxic. These toxins relate to biogenic amines – ptomaine. The presence of maple syrup metabolic disorder by biochemical and molecular genetic methods in Azerbaijan population confirms the importance of screening test of newborns for the respective disease. Homozygous substitution of adenine by guanine mutation has been found in DBT (dihydrolipoamide branched-chain transacylase) gene at 1199 nucleotide position (p. N400S 1199 A (Adenine) G (Guanine)). No mutations were identified in BCKDHA (branched-chain keto acid dehydrogenase E1, alpha polypeptide) and 2 Huseynova Lala Samaddin and Hagverdiyeva Raya Rustam BCKDHB (branched-chain keto acid dehydrogenase E1, beta polypeptide) genes. The identified mutation (1199 A (Adenine)-G (Guanine)) is a new mutation and has not been included in any literature. This mutation disrupts the metabolism of Valine, Leucine and Isoleucine amino acids and leads to maple syrup disease. For the diagnosis of maple syrup metabolic disorder the amount of valine, leucine and isoleucine amino acids was evaluated in the urine and plasma and the comparison of obtained results revealed that plasma analysis was more informative.","PeriodicalId":7194,"journal":{"name":"Advanced Studies in Biology","volume":"70 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76191119","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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