Cargando…
Association between a novel G94A single nucleotide polymorphism in ATP1A1 gene and type 2 diabetes mellitus among Egyptian patients
BACKGROUND: Na(+)/K(+) ATPase enzyme is essential for nerve cell membrane integrity, and reduction in its activity, probably due to ATP1A1 gene polymorphisms, is related to diabetic neuropathy progression. Therefore, the goal of the existent study is to evaluate the Na(+)/K(+) ATPase activity in typ...
Autores principales: | , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6669993/ https://www.ncbi.nlm.nih.gov/pubmed/31523248 http://dx.doi.org/10.4103/jrms.JRMS_975_18 |
_version_ | 1783440483629924352 |
---|---|
author | Abosheasha, Mohammed A Zahran, Faten Bessa, Sahar S El-Magd, Mohammed A Mohamed, Tarek M |
author_facet | Abosheasha, Mohammed A Zahran, Faten Bessa, Sahar S El-Magd, Mohammed A Mohamed, Tarek M |
author_sort | Abosheasha, Mohammed A |
collection | PubMed |
description | BACKGROUND: Na(+)/K(+) ATPase enzyme is essential for nerve cell membrane integrity, and reduction in its activity, probably due to ATP1A1 gene polymorphisms, is related to diabetic neuropathy progression. Therefore, the goal of the existent study is to evaluate the Na(+)/K(+) ATPase activity in type 2 diabetes mellitus (T2DM) Egyptian patients with or without neuropathy, search for polymorphism(s) in the highly polymorphic region of ATP1A1 gene, exon 2, and study its (their) associations with T2DM with and without neuropathy. MATERIALS AND METHODS: A total number of 150 individuals were subclassified into healthy controls (n = 30), T2DM without complications (n = 60), and T2DM with neuropathy (n = 60). RESULTS: The biochemical results exhibited a significant reduction in fasting C-Peptide and activity of Na(+)/K(+) ATPase in T2DM patients with neuropathy followed by T2DM without complication in comparison with healthy controls. ATP1A1 exon2 was amplified by polymerase chain reaction (PCR) then digested by the PstI restriction enzyme, and the obtained data from restriction fragment length polymorphism-PCR and sequencing revealed the existence of a novel synonymous G94A single nucleotide polymorphism (SNP) at nucleotide 27 in exon 2 of ATP1A1 gene (rs1060366). Diabetic groups had only allele A, while the control group had G allele. Interestingly, individuals carrying AA genotype had a significantly lower Na(+)/K(+) ATPase, C-peptide, and higher glycosylated hemoglobin (HBA1c %) than those having GG genotype, suggesting a possible association for this SNP, and this developed phenomenon of not only T2DM but also diabetic neuropathy. CONCLUSION: Thus, allele A of G94A SNP (rs1060366) could be a risk allele for diabetes susceptibility among Egyptian patients. |
format | Online Article Text |
id | pubmed-6669993 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
spelling | pubmed-66699932019-09-13 Association between a novel G94A single nucleotide polymorphism in ATP1A1 gene and type 2 diabetes mellitus among Egyptian patients Abosheasha, Mohammed A Zahran, Faten Bessa, Sahar S El-Magd, Mohammed A Mohamed, Tarek M J Res Med Sci Original Article BACKGROUND: Na(+)/K(+) ATPase enzyme is essential for nerve cell membrane integrity, and reduction in its activity, probably due to ATP1A1 gene polymorphisms, is related to diabetic neuropathy progression. Therefore, the goal of the existent study is to evaluate the Na(+)/K(+) ATPase activity in type 2 diabetes mellitus (T2DM) Egyptian patients with or without neuropathy, search for polymorphism(s) in the highly polymorphic region of ATP1A1 gene, exon 2, and study its (their) associations with T2DM with and without neuropathy. MATERIALS AND METHODS: A total number of 150 individuals were subclassified into healthy controls (n = 30), T2DM without complications (n = 60), and T2DM with neuropathy (n = 60). RESULTS: The biochemical results exhibited a significant reduction in fasting C-Peptide and activity of Na(+)/K(+) ATPase in T2DM patients with neuropathy followed by T2DM without complication in comparison with healthy controls. ATP1A1 exon2 was amplified by polymerase chain reaction (PCR) then digested by the PstI restriction enzyme, and the obtained data from restriction fragment length polymorphism-PCR and sequencing revealed the existence of a novel synonymous G94A single nucleotide polymorphism (SNP) at nucleotide 27 in exon 2 of ATP1A1 gene (rs1060366). Diabetic groups had only allele A, while the control group had G allele. Interestingly, individuals carrying AA genotype had a significantly lower Na(+)/K(+) ATPase, C-peptide, and higher glycosylated hemoglobin (HBA1c %) than those having GG genotype, suggesting a possible association for this SNP, and this developed phenomenon of not only T2DM but also diabetic neuropathy. CONCLUSION: Thus, allele A of G94A SNP (rs1060366) could be a risk allele for diabetes susceptibility among Egyptian patients. Wolters Kluwer - Medknow 2019-07-24 /pmc/articles/PMC6669993/ /pubmed/31523248 http://dx.doi.org/10.4103/jrms.JRMS_975_18 Text en Copyright: © 2019 Journal of Research in Medical Sciences http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
spellingShingle | Original Article Abosheasha, Mohammed A Zahran, Faten Bessa, Sahar S El-Magd, Mohammed A Mohamed, Tarek M Association between a novel G94A single nucleotide polymorphism in ATP1A1 gene and type 2 diabetes mellitus among Egyptian patients |
title | Association between a novel G94A single nucleotide polymorphism in ATP1A1 gene and type 2 diabetes mellitus among Egyptian patients |
title_full | Association between a novel G94A single nucleotide polymorphism in ATP1A1 gene and type 2 diabetes mellitus among Egyptian patients |
title_fullStr | Association between a novel G94A single nucleotide polymorphism in ATP1A1 gene and type 2 diabetes mellitus among Egyptian patients |
title_full_unstemmed | Association between a novel G94A single nucleotide polymorphism in ATP1A1 gene and type 2 diabetes mellitus among Egyptian patients |
title_short | Association between a novel G94A single nucleotide polymorphism in ATP1A1 gene and type 2 diabetes mellitus among Egyptian patients |
title_sort | association between a novel g94a single nucleotide polymorphism in atp1a1 gene and type 2 diabetes mellitus among egyptian patients |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6669993/ https://www.ncbi.nlm.nih.gov/pubmed/31523248 http://dx.doi.org/10.4103/jrms.JRMS_975_18 |
work_keys_str_mv | AT abosheashamohammeda associationbetweenanovelg94asinglenucleotidepolymorphisminatp1a1geneandtype2diabetesmellitusamongegyptianpatients AT zahranfaten associationbetweenanovelg94asinglenucleotidepolymorphisminatp1a1geneandtype2diabetesmellitusamongegyptianpatients AT bessasahars associationbetweenanovelg94asinglenucleotidepolymorphisminatp1a1geneandtype2diabetesmellitusamongegyptianpatients AT elmagdmohammeda associationbetweenanovelg94asinglenucleotidepolymorphisminatp1a1geneandtype2diabetesmellitusamongegyptianpatients AT mohamedtarekm associationbetweenanovelg94asinglenucleotidepolymorphisminatp1a1geneandtype2diabetesmellitusamongegyptianpatients |