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The 1316T>C missenses mutation in MTHFR contributes to MTHFR deficiency by targeting MTHFR to proteasome degradation.

Aging - 3 Dec 2020

Liu Xi, Li Yu, Wang Menghan, Wang Xiaojun, Zhang Limin, Peng Tao, Liang Wenping, Wang Zhe, Lu Hong

Abstract excerpt

5,10-methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare hereditary disease characterized by defects in folate and homocysteine metabolism. Individuals with inherited MTHFR gene mutations have a higher tendency to develop neurodegeneration disease as Alzheimer' disease and atherosclerosis. MTHFR is a rate-limiting enzyme catalyzing folate production, various SNPs/mutations in the MTHFR gene have been...

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Identifiers

PMID: 33290257
DOI: 10.18632/aging.202256
PMCID: PMC7834980

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Source receipt: pubmed, retrieved 7 Sept 2026.

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