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© Research
Publication : PloS one

Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in PloS one - 06 Aug 2009

Ravel C, Chantot-Bastaraud S, Chalmey C, Barreiro L, Aknin-Seifer I, Pfeffer J, Berthaut I, Mathieu EE, Mandelbaum J, Siffroi JP, McElreavey K, Bashamboo A

Link to Pubmed [PMID] – 19657388

PLoS ONE 2009;4(8):e6540

The metabolic pathway of folate is thought to influence DNA stability either by inducing single/double stranded breaks or by producing low levels of S-adenosyl-methionine leading to abnormal gene expression and chromosome segregation. Polymorphisms in the genes encoding enzymes in the folate metabolism pathway show distinct geographic and/or ethnic variations and in some cases have been linked to disease. Notably, the gene Methylenetetrahydrofolate reductase (MTHFR) in which the homozygous (TT) state of the polymorphism c.665C>T (p.A222V) is associated with reduced specific activity and increased thermolability of the enzyme causing mild hyperhomocysteinemia. Recently several studies have suggested that men carrying this polymorphism may be at increased risk to develop infertility.

http://www.ncbi.nlm.nih.gov/pubmed/19657388