What is MTHFR 677t?
The Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism is associated with various diseases (vascular, cancers, neurology, diabetes, psoriasis, etc) with the epidemiology of the polymorphism of the C677T that varies dependent on the geography and ethnicity.
What is compound heterozygous MTHFR mutation C677T A1298C?
When a person has two copies of the MTHFR C677T gene mutation (homozygous) or one copy of MTHFR C677T and one copy of A1298C (compound heterozygous), decreased MTHFR enzyme activity slows down the homocysteine-to-methionine conversion process and can lead to a buildup of homocysteine in the blood.
What does MTHFR A1298C mean?
There are two common MTHFR mutations, known as C677T and A1298C. The term MTHFR stands for methylenetetrahydrofolate reductase. MTHFR is an enzyme that breaks down the amino acids’ homocysteine and folate. Homocysteine is an amino acid that works to maintain the body’s cells.
What does it mean to have MTHFR mutation?
MTHFR gene variants are common. They cause differences, such as eye color, hair color, and blood type. You may have seen the MTHFR C677T variant referred to as a “gene mutation;” however, the word, “mutation,” usually refers to a change in the gene that is much less common.
What is heterozygous A1298C?
Heterozygous MTHFR mutations seem to have only minor influences on enzyme activity and health. Heterozygous A1298C is thought to be of minor consequence (if any), while heterozygous C677T may affect folate metabolism by up to 35% (3, 11).
How serious is MTHFR?
An increase in homocysteine levels caused by MTHFR gene polymorphisms have been studied as possible risk factors for a variety of common conditions. These include high blood pressure (hypertension), blood clots, pregnancy loss, psychiatric disorders, and certain types of cancer.
What diseases does MTHFR cause?
Conditions that have been proposed to be associated with MTHFR include:
- cardiovascular and thromboembolic diseases (specifically blood clots, stroke, embolism, and heart attacks)
- depression.
- anxiety.
- bipolar disorder.
- schizophrenia.
- colon cancer.
- acute leukemia.
- chronic pain and fatigue.