
	Journal of Medical Sciences
	Year: 2004 \| Volume: 4 \| Issue: 2 \| Page No.: 95-101 DOI: 10.3923/jms.2004.95.101

Molecular Genetic Analysis in Mild Hyperhomocysteinemia: A Common Mutation in the Methylenetetrahydrofolate Reductase Gene Associated with Recurrent Cerebrovascular Strokes

Hamed A. El-Khayat, Yasser Awaad , Hoda Y. Tomoum , Ezzat Elsobky and Solaf Elsayed

Abstract: Elevated plasma homocysteine is an independent risk factor for arteriosclerotic heart disease and thrombosis. One of the most common genetic defects in homocysteine metabolism is a mutation in the enzyme methylenetetrahydrofolate reductase (MTHFR) that creates a thermolabile enzyme with reduced activity. We report a case of 12-year old male child who presented with three episodes of strokes over the last three years. Laboratory evaluation showed only mild hyperhomocysteinemia (11.3 μmol L^-¹). Further testing revealed that he was homozygous for the MTHFR 677 C-to-T mutation. Considering that 10% of the population`s risk for arterial vascular disease may be attributable to elevated homocysteine levels, the high prevalence of the MTHFR mutation may represent an important genetic risk factor. We recommend MTHFR mutation analysis for patients with variable or ambiguous homocysteine levels, since plasma levels are dependent on other factors as sample handling, which is not the case with DNA results.

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How to cite this article:

Hamed A. El-Khayat, Yasser Awaad , Hoda Y. Tomoum , Ezzat Elsobky and Solaf Elsayed , 2004. Molecular Genetic Analysis in Mild Hyperhomocysteinemia: A Common Mutation in the Methylenetetrahydrofolate Reductase Gene Associated with Recurrent Cerebrovascular Strokes. Journal of Medical Sciences, 4: 95-101.

DOI: 10.3923/jms.2004.95.101

URL: https://scialert.net/abstract/?doi=jms.2004.95.101

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