Methylenetetrahydrofolate reductase,MTHFR, polymorphisms and predisposition to different multifactorial disorders |
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| Authors: | Carlotta Pia Cristalli Chiara Zannini Giorgia Comai Olga Baraldi Vania Cuna Maria Cappuccilli Vilma Mantovani Niccolò Natali Giuseppe Cianciolo Gaetano La Manna |
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| Affiliation: | 1.Department of Experimental, Diagnostic and Specialty Medicine (DIMES)?-?Nephrology, Dialysis and Transplantation Unit, St. Orsola Hospital,University of Bologna,Bologna,Italy;2.Center for Applied Biomedical Research (CRBA),University of Bologna,Bologna,Italy;3.Department of Experimental, Diagnostic and Specialty Medicine (DIMES)?-?Histology Section,University of Bologna,Bologna,Italy;4.Genetic Unit, St. Orsola Hospital,University of Bologna,Bologna,Italy |
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| Abstract: | Gene polymorphisms involved in homocysteine-methionine pathway result in hyperhomocysteinemia, a predisposing condition to several diseases. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in folate and homocysteine metabolism. The two known functional polymorphisms of MTHFR gene, 677C>T and 1298A>C have been implicated in a variety of multifactorial diseases: cardio-cerebrovascular and neurodegenerative disorders, autoimmune diseases, birth defects, diabetes, neuropsychiatric disorders, cancer and renal disease. C667T, and to a lesser extent A1298C polymorphisms, have been also reported to have a pharmacogenetic role in predicting drug toxicity in cancer and rheumatoid arthritis treatment. We review here the principal effects of the MTHFR gene variations in different clinical conditions. |
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