PMID- 31523248
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220410
IS  - 1735-1995 (Print)
IS  - 1735-7136 (Electronic)
IS  - 1735-1995 (Linking)
VI  - 24
DP  - 2019
TI  - Association between a novel G94A single nucleotide polymorphism in ATP1A1 gene 
      and type 2 diabetes mellitus among Egyptian patients.
PG  - 62
LID - 10.4103/jrms.JRMS_975_18 [doi]
LID - 62
AB  - 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.
FAU - Abosheasha, Mohammed A
AU  - Abosheasha MA
AD  - Department of Biochemistry, Faculty of Science, Zagazig University, Zagazig, 
      Egypt.
AD  - Cellular Genetics Laboratory, Graduate School of Science, Tokyo Metropolitan 
      University, Tokyo, 192-0397, Japan.
FAU - Zahran, Faten
AU  - Zahran F
AD  - Department of Biochemistry, Faculty of Science, Zagazig University, Zagazig, 
      Egypt.
FAU - Bessa, Sahar S
AU  - Bessa SS
AD  - Department of Internal Medicine, Faculty of Medicine, Tanta University, Tanta, 
      Egypt.
FAU - El-Magd, Mohammed A
AU  - El-Magd MA
AD  - Department of Anatomy, Faculty of Veterinary Medicine, Kafrelsheikh University, 
      Kafr El-Sheikh, Egypt.
FAU - Mohamed, Tarek M
AU  - Mohamed TM
AD  - Department of Chemistry, Biochemistry Division, Faculty of Science, Tanta 
      University, Tanta, Egypt.
LA  - eng
PT  - Journal Article
DEP - 20190724
PL  - India
TA  - J Res Med Sci
JT  - Journal of research in medical sciences : the official journal of Isfahan 
      University of Medical Sciences
JID - 101235599
PMC - PMC6669993
OTO - NOTNLM
OT  - C-peptide
OT  - diabetes mellitus
OT  - diabetic neuropathies
OT  - polymorphism
OT  - sodium-potassium-exchanging ATPase
COIS- There are no conflicts of interest.
EDAT- 2019/09/17 06:00
MHDA- 2019/09/17 06:01
PMCR- 2019/07/24
CRDT- 2019/09/17 06:00
PHST- 2018/12/12 00:00 [received]
PHST- 2019/02/03 00:00 [revised]
PHST- 2019/04/14 00:00 [accepted]
PHST- 2019/09/17 06:00 [entrez]
PHST- 2019/09/17 06:00 [pubmed]
PHST- 2019/09/17 06:01 [medline]
PHST- 2019/07/24 00:00 [pmc-release]
AID - JRMS-24-62 [pii]
AID - 10.4103/jrms.JRMS_975_18 [doi]
PST - epublish
SO  - J Res Med Sci. 2019 Jul 24;24:62. doi: 10.4103/jrms.JRMS_975_18. eCollection 
      2019.