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Association between MTHFR variant and diabetic neuropathy
Armita Kakavand Hamidi1, Mania Radfar2, Mahsa M Amoli1
1Metabolic Disorders Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
Background:
Methylene-tetrahydrofolate reductase (MTHFR) gene variant may play an important role in the pathophysiology of diabetes and its complications due to its influence on plasma homocysteine levels and also its effect on scavenging peroxynitrite radicals. Diabetic peripheral neuropathy (DPN) is one of the most common diabetic chronic complications. The aim of this study was to investigate the relationship between diabetic neuropathy and MTHFR gene C677T and 1298A ⁄C polymorphisms.
Method:
Patients with type 2 diabetes N=248 were enrolled in the study, consisting of patients with neuropathy (N=141) and patients without neuropathy (N=107). MTHFR C677T polymorphism was analyzed using polymerase chain reaction followed by restriction fragment length polymorphism (PCR-RFLP) of genomic DNA for genotyping of samples. 1298A/C polymorphism was evaluated using ARMS-PCR.
Result:
There was a significant difference in MTHFR polymorphism between the groups with and without neuropathy.
Conclusion:
Our results suggest that MTHFR 677 variant confer risk for diabetic neuropathy among Iranian patients with type 2 diabetes.
Insights
The MTHFR 677 gene variant is linked to an increased risk of diabetic peripheral neuropathy in Iranian type 2 diabetes patients. This finding highlights the role of MTHFR gene variations in diabetes complications.
Area of Science:
- Genetics and Molecular Biology
- Endocrinology
- Neurology
Background:
- Methylene-tetrahydrofolate reductase (MTHFR) gene variants influence homocysteine and peroxynitrite levels, impacting diabetes pathophysiology.
- Diabetic peripheral neuropathy (DPN) is a common complication of diabetes.
- MTHFR gene's role in DPN pathogenesis warrants investigation.
Purpose of the Study:
- To examine the association between MTHFR gene polymorphisms (C677T and 1298A/C) and diabetic neuropathy.
- To determine if MTHFR variants are risk factors for DPN in type 2 diabetes patients.
Main Methods:
- A case-control study involving 248 patients with type 2 diabetes (141 with DPN, 107 without).
- MTHFR C677T polymorphism analyzed via polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
- MTHFR 1298A/C polymorphism assessed using Amplification Refractory Mutation System-PCR (ARMS-PCR).
Main Results:
- A significant difference in MTHFR gene polymorphism was observed between patients with and without diabetic neuropathy.
- The MTHFR C677T variant showed a notable association with DPN.
Conclusions:
- The MTHFR 677 variant appears to confer a risk for developing diabetic neuropathy.
- These findings suggest MTHFR gene polymorphisms are relevant to DPN in Iranian type 2 diabetes patients.
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