Studio della mutazione MTHFR C677T e iperomocisteinemia

The MTHFR C677T mutation is a genetic defect transmitted in an autosomal recessive manner affecting the enzyme methylentetrahydropholate reductase,responsible for reducing the enzyme activity for which it encodes,modifying its functional expression and producine a thermolable effect in correlation with hyperhomocysteinemia.The polymorphism C677T ia a point mutation,thats to say a substitution of cytosine with thymine in 677 nucleotide(C677T) of the gene coding for homocysteine and gives rise to an amino acid substitution alanine/valine, responsible for the thermolability of the MTHFR enzyme.with increase of the serum concentration of homocysteinemia.The MTHFRC677T mutation is a common pèplymorphism with a frequency in Europe of about 20% homozygous and heterozygotes of about 40%.This study evaluates the predominant role of the homo/heterozygous genetic factor for C677T polymorphism,on the levels of homocysteinemia in subjects with vascular and thrombotic pathologies,compared to vitamin factors.