mutation can cause methylenetetrahydrofolate reductase

What is the Effect of the MTHFR Gene Mutation in Humans What is the MTHFR gene?The full name of the MTHFR gene is "methylenetetrahydrofolate reductase (NAD(P)H)." The protein encoded by this gene is an Mens Puma Ferrari Shoes enzyme that catalyzes the reduction of methylenetetrahydrofolate to methyltetrahydrofolate, "a cofactor for homocysteine methylation to methionine" (Goyette et al., 1994). This enzyme is essential for the homeostasis and normal metabolism of intracellular folate. In humans, MTHFR is located on the chromosome 1. It is expressed in various tissues including the brain, muscle, liver, and stomach (Gaughan et al., 2000). MTHFR gene mutation can cause methylenetetrahydrofolate reductase deficiency. Genetic variations in this gene have been related to many diseases including colon cancer, leukemia, vascular disease, depression, schizophrenia, migraine with aura, glaucoma, Down syndrome, and neural tube defects. MTHFR gene mutation and diseasesDifferent types of mutations have been found in the MTHFR gene, including missense and Mens Puma Cabana Racer II LX nonsense mutations (Goyette et al., 1994). MTHFR gene mutations may cause the deficiency of the protein, which has been related to diseases such as homocystinuria, an inherited disorder with the abnormal metabolism of the amino acid methionine. The symptoms of homocystinuria include delayed Mens Puma Baylee Future Cat development, visual problems, long limbs, and Mens Puma Mummy Shoes psychiatric disorders. A common gene mutation may occur at the nucleotide number 677, with a C to T substitution. The mutation converts the alanine to a valine residue. In patients with low folate Women's Puma Fluxion II status, this 677C T mutation has been connected to hyperhomocysteinemia that has high levels of homocysteine in the blood (Guttormsen et al., 1996). It is a problem that may show symptoms of general pain and inflammation, with the increased risk of heart disease. The hyperhomocysteinemia patients often also have reduced intake of vitamins, consume more coffee, and smoke frequently. This is caused by a mutation that prohibts the body from converting folate into usable Methylfolate (L MTHF). One possible treatment is for patients with this condition to take L MTHF (or 5 MTHF). This MTHFR gene mutation (677C T) has been considered a critical risk factor in vascular disease. For example, a study of 362 Japanese male patients found the association between this mutation and coronary artery disease (CAD) (Morita et al., 1997). The mutation may cause impaired folate metabolism, which leads to the elevation of plasma homocystine levels and the increased risk of coronary Women's Puma Usain Bolt Shoes heart disease (Klerk et al., 2002). In addition, this mutation has been suggested a risk factor for hypertension (Qian et al., 2007). MTHFR and cancer treatmentMTHFR gene mutations play significant Mens Puma Repli Cat III roles in the investigation of cancer treatment. This is because of their close relationships with the intracellular folate Women's Puma Lazy Insect Shoes composition and one carbon transfer reactions (Kim, 2009). Specifically, the MTHFR 677C T mutation has been associated with cancer risks. The combination of this mutation with low folate levels may be related to abnormal DNA methylation, a common feature of human neoplasia (Castro et al., 2004). Furthermore, genetic variations in Women's Puma Voltaic Shoes the MTHFR gene have been connected with the responses to chemotherapeutic drugs such as 5 Cheap Puma Shoes fluorouracil (5FU) and methotrexate (MTX) (Kim, 2009). These drugs are commonly used for cancer treatments and for anti inflammatory effects. In fact, MTHFR inhibition has been suggested as a potential target for improving the effects of 5FU based chemotherapy. What others are readingHazel Eyes and GeneticsThe MTHFR Mutation in HumansEarlobes and Human GeneticsWhat Causes Widow's Peak Hair? Is Genetics Involved?An Overview of Cleft Chin: What is it and What Causes It? The Genetics of Red HairWhat Causes Polydactyly?What Determines Eye Color? The Genetics of Blue, Green, Brown, Gray and Hazel EyesThe Genetics of DimplesTongue Rolling Genetics.