Abstract
Background: A common C677T mutation of methylenetetrahydrofolate reductase (MTHFR) gene is reported to be associated with hyperhomocysteinemia a risk for atherosclerotic vascular diseases and ischemic stroke (IS). Aim: To clarify the possible role of the MTHFR 677C>T polymorphism in predisposition to IS and to assess the relationship of allelic variants of MTHFR gene with homocysteine (Hcy) plasma levels and other risk factors of atherosclerosis and IS in type 2 diabetic Egyptians. Subjects: Group I: 40 healthy non diabetic volunteers. Group II: 40 patients with type 2 diabetes mellitus (DM) without IS. Group III: 40 patients with type 2 DM and IS. Methods: Fasting blood samples were collected for research investigations. HPLC technique was used to estimate plasma Hcy levels. Polymerase chain reaction (PCR) assay with restriction fragment length polymorphism (RFLP) were used to examine the MTHFR polymorphism. Results: The frequencies of T allele and TT genotype were significantly higher in group III patients when compared to group I and group II (P T polymorphism is associated with elevated Hcy and uric acid plasma levels which increases the atherogenic risk and the prevalence of IS in type 2 diabetic Egyptian patients.
Highlights
Diabetes mellitus (DM) is a multifactorial and polygenic disease which is considered as a major life threatening problem all over the world (Audelin et al, 2001)
The 23 bp was too faint to be detected on agarose gel .Genotype and alleles frequencies for methylenetetrahydrofolate reductase (MTHFR) are presented in table (2) and figure (1)
In diabetic patients without ischemic stroke (IS)(GroupII): the homozygous CC was found in 24 patients (60%), the heterozygous computed tomography (CT) in 10 patients (25%) and the homozygous TT in 6 patients (15%).Chi square (X2) for group II=4.143 and there was non-significant association when compared to the controls(P= 0.126)
Summary
Diabetes mellitus (DM) is a multifactorial and polygenic disease which is considered as a major life threatening problem all over the world (Audelin et al, 2001). MTHFR 677C>T (Ala222Val ) single nucleotide polymorphism (SNP) is associated with reduced enzyme activity, resulting in a relative deficiency in the remethylation process, leading to hyperhomocysteinemia among carriers of the CT and TT genotypes (Aguilar,2004). A common C677T mutation of methylenetetrahydrofolate reductase (MTHFR) gene is reported to be associated with hyperhomocysteinemia a risk for atherosclerotic vascular diseases and ischemic stroke (IS). Aim: To clarify the possible role of the MTHFR 677C>T polymorphism in predisposition to IS and to assess the relationship of allelic variants of MTHFR gene with homocysteine (Hcy) plasma levels and other risk factors of atherosclerosis and IS in type 2 diabetic Egyptians. Group II: 40 patients with type 2 diabetes mellitus (DM) without IS. Conclusion: The MTHFR 677C>T polymorphism is associated with elevated Hcy and uric acid plasma levels which increases the atherogenic risk and the prevalence of IS in type 2 diabetic Egyptian patients
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