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MTHFR gene polymorphisms in diabetes mellitus.

Yaqin Cai1, Bin Liu2, Yingping Zhang1

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Summary

Methylenetetrahydrofolate reductase (MTHFR) gene variations are linked to elevated homocysteine, a risk factor for diabetes complications. This review explores the MTHFR gene

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Gestational diabetes mellitusHomocysteineMethionine synthase reductaseMethylenetetrahydrofolate reductaseType 1 diabetesType 2 diabetes

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Area of Science:

  • Genetics
  • Biochemistry
  • Endocrinology

Background:

  • The folic acid cycle involves key enzymes like methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR), and methionine synthase reductase (MTRR), crucial for homocysteine and methionine balance.
  • MTHFR and MTRR gene polymorphisms can impair homocysteine remethylation, leading to elevated homocysteine levels (hyperhomocysteinemia).
  • Hyperhomocysteinemia is associated with vascular damage, thrombosis, and heart disease, significant contributors to diabetes mellitus (DM) mortality and morbidity.

Purpose of the Study:

  • To review the emerging role of methylenetetrahydrofolate reductase (MTHFR) gene polymorphism as a risk factor in diabetes mellitus.
  • To summarize current research on the association between MTHFR gene variations and the pathophysiology of diabetes, including inflammation and insulin resistance.

Main Methods:

  • Literature review of studies investigating MTHFR gene polymorphisms and their association with diabetes mellitus.
  • Analysis of biochemical pathways involving MTHFR, homocysteine metabolism, and their implications in diabetic complications.

Main Results:

  • MTHFR gene polymorphisms, particularly C677T, are independently associated with increased plasma homocysteine levels.
  • Elevated homocysteine due to MTHFR variations may contribute to vascular complications prevalent in diabetes.
  • Emerging evidence suggests MTHFR gene polymorphisms play a role in diabetes pathophysiology, influencing inflammation and insulin resistance.

Conclusions:

  • MTHFR gene polymorphism is an emerging risk factor for diabetes mellitus.
  • Understanding the link between MTHFR variations and diabetes is crucial for developing novel intervention and prevention strategies.
  • Further research is warranted to elucidate the precise mechanisms by which MTHFR gene polymorphisms impact diabetes and its complications.