Polymorphism of methylenetetrahydrofolate reductase gene (Mthfr) and occurrence of the hyperhomocyteinemia-related diseases

• Authors: A.L. Pawlak , E. Strauss , A. L. Pawlak
• Languages of publication: PL

Abstracts

EN

Methylenetetrahydrofolate reductase (MTHFR), is a cytosolic enzyme, the product of which is N5-metyltetrahydrofolate, the main form of folates in tissues and the carbon donor for methylation of homocysteine to methionine. In MTHFR gene a series of the pathogenic mutations is known which lead to loss of enzymatic activity as well as the two polymorphic alleles (MTHFR 677T and 1298C) with products displaying the lowered enzyme activity resulting in hyperhomocysteinaemia. These polymorphic alleles of MTHFR represent the main genetic factor contributing to hyperhomocysteinaemia. The better known allele MTHFR 677T is found in different populations with frequency between ca. 0,1 and 0,36. In persons inheriting the variant alleles of MTHFR the increase in the level of homocysteine is noted resulting in the increased susceptibility to vascular diseases and the neural tube defects in the progeny. The procedure recommended for the prevention of effects of deficiency of MTHFR activity consists of the supplementation of the diet with 0,4 mg of folic acid daily.

Keywords

EN

GENE POLYMORPHISM; HOMOCYSTEINE; HYPERHOMOCYSTEINEMIA; METHYLENETETRAHYDROFOLATE REDUCTASE; METHYLENETETRAHYDROFOLATE REDUCTASE GENE

Discipline

• EXPERIMENTAL_BIOLOGY_&_MEDICINE: EXPERIMENTAL BIOLOGY & MEDICINE

• Publisher: Index Copernicus International
• Journal: Postępy Higieny i Medycyny Doświadczalnej
• Year: 2001
• Volume: 55
• Issue: 2
• Pages: 233-256

Contributors

author

A.L. Pawlak

author

E. Strauss

author

A. L. Pawlak

• Document Type: ARTICLE
• Publication order reference: A.L. Pawlak, Zak?ad Genetyki Czlowieka PAN, ul. Strzeszynska 32, 60-479 Poznan, Poland