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.

Methylenetetrahydrofolate reductase, MTHFR, polymorphisms and predisposition to different multifactorial disorders

CRISTALLI, CARLOTTA PIA;ZANNINI, CHIARA;COMAI, GIORGIA;BARALDI, OLGA;CUNA, VANIA;CAPPUCCILLI, MARIA;MANTOVANI, VILMA;CIANCIOLO, GIUSEPPE;LA MANNA, GAETANO
2017

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.
Cristalli, Carlotta Pia; Zannini, Chiara; Comai, Giorgia; Baraldi, Olga; Cuna, Vania; Cappuccilli, Maria; Mantovani, Vilma; Natali, Niccolò; Cianciolo, Giuseppe; La Manna, Gaetano
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/603818
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