The common 'thermolabile' variant of methylene tetrahydrofolate reductase is a major determinant of mild hyperhomocysteinaemia

[Mutations in the methylene-tetrahydrofolate reductase gene and Down syndrome].

Down syndrome (DS) is a complex genetic and metabolic disorder attributed to the presence of three copies of chromosome 21. The extra chromosome derives from the mother in 93% of cases and is due to abnormal chromosome segregation during meiosis (nondisjunction). Except for advanced age at conception, maternal risk factors for meiotic nondisjunction are not well established. A recent preliminar...

Prevalence of methylene tetrahydrofolate reductase polymorphism in South Indian population

Prevalence of methylene tetrahydrofolate reductase (MTHFR) gene mutations in South Indian population was investigated from a total of 608 samples, 420 adults and 188 newborns. Detection of mutation was carried out focussing on the two most common mutations of the MTHFR gene (C677T and A1298C) using PCRbased RFLP method. T-allele frequency was almost similar between the newborns and adults (0.09...

Thermolabile 5,10-MethylenetetrahydrofoIate Reductase as a Cause of Mild Hyperhomocysteinemia

Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia.

Thermolability of 5,10-methylenetetrahydrofolate reductase (MTHFR) was examined as a possible cause of mild hyperhomocysteinemia in patients with premature vascular disease. Control subjects and vascular patients with mild hyperhomocysteinemia and with normohomocysteinemia were studied. The mean (+/- SD) specific MTHFR activity in lymphocytes of 22 control subjects was 15.6 (+/- 4.7) nmol CH2O/...

The Methylene Tetrahydrofolate Reductase Gene Variant C677T is not Associated with Migraine in Twelve Sudanese Pedigrees with Migraine

No definitive pathophysiology exists for migraine yet, nevertheless, many theories were postulated with the most ancient one being the vascular theory which was developed by H. Wolff during the 1940s [1]. According to Lauritzen, Wolff described migraine as a vasospastic disorder that is initiated by vasoconstriction in the cranial vasculature. The vasoconstriction is then followed by dilatation...