Methylenetetrahydrofolate reductase, MTHFR, polymorphisms and predisposition to different multifactorial disorders
| Autor: | Chiara Zannini, Gaetano La Manna, Carlotta Pia Cristalli, Olga Baraldi, Vilma Mantovani, Vania Cuna, Giorgia Comai, Maria Cappuccilli, Niccolò Natali, Giuseppe Cianciolo |
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| Přispěvatelé: | Cristalli, Carlotta Pia, Zannini, Chiara, Comai, Giorgia, Baraldi, Olga, Cuna, Vania, Cappuccilli, Maria, Mantovani, Vilma, Natali, Niccolò, Cianciolo, Giuseppe, La Manna, Gaetano |
| Rok vydání: | 2017 |
| Předmět: |
Hyperhomocysteinemia
Folate pathway Disease 030204 cardiovascular system & hematology Bioinformatics Biochemistry 03 medical and health sciences 0302 clinical medicine Diabetes mellitus Genetics medicine Homocysteine Molecular Biology biology Methylenetetrahydrofolate reductase Cancer medicine.disease digestive system diseases Human genetics Single nucleotide polymorphism 030220 oncology & carcinogenesis Rheumatoid arthritis biology.protein Pharmacogenetics |
| Zdroj: | Genes & Genomics. 39:689-699 |
| ISSN: | 2092-9293 1976-9571 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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