Professor & patients' paper on the solvable biological challenge of ME/CFS: reader-friendly version
Simon McGrath provides a patient-friendly version of a peer-reviewed paper which highlights some of the most promising biomedical research on ME/CFS ...
Discuss the article on the Forums.

MTHFR A1298C variant

Discussion in 'Detox: Methylation; B12; Glutathione; Chelation' started by determined, Aug 17, 2011.

  1. determined

    determined Senior Member

    USA: Deep South
    I know that I always welcome published information regarding my various SNPs. Hopefully someone else will too.

    J Mol Neurosci. 2011 Aug 16. [Epub ahead of print]
    Evaluation of the MTHFR A1298C Variant in Leukoaraiosis.
    Szolnoki Z, Szaniszlo I, Szekeres M, Hitri K, Kondacs A, Mandi Y, Nedo E, Somogyvari F.


    Department of Neurology and Cerebrovascular Diseases, Pndy Klmn County Hospital, Gyula, Hungary,


    Vascular demyelinization of the white matter of the brain is referred to as leukoaraiosis (LA). This very frequent entity is associated with a cognitive decline, thereby resulting in a deteriorating quality of life. Besides poorly controlled hypertension and aging, its development is reported to be associated with an elevated serum homocysteine level. Although the methylenetetrahydrofolate reductase (MTHFR) C677T genetic variant is associated with an elevated serum homocysteine level, it has not been proved to be an independent risk factor for LA. The aim of the present study was to examine whether the MTHFR A1298C genetic variant, which is also believed to be unfavorable, is associated with the presence of LA. The clinical and genetic data on 198 LA patients and 235 neuroimaging alteration-free controls were analyzed. The presence of the A1298C or the 1298CC variant was calculated to be a risk factor for LA, as compared with the absence of both of them. The clustering of the heterozygous A1298C and C677T variants was proved to involve the risk of LA. Our results suggest that the MTHFR A1298C variant confers an independent genetic risk of LA, and this pathological role may be amplified by the MTHFR C677T variant.
    Gloria H likes this.

See more popular forum discussions.

Share This Page