What is heterozygous MTHFR mutation A1298C?
The A1298C mutation, like the C677T mutation, results in a decrease in MTHFR activity that is more pronounced in the homozygous (CC) than in the heterozygous (AC) or normal (AA) states, and does not result in a thermolabile protein.
Has two copies of the A1298C variant in the MTHFR gene?
What does having two copies of the A1298C mutation mean for treatment and further testing recommendations? Having two copies of A1298C is not associated with significant health risks. We recommend that you discuss this with your doctor to determine if further testing is recommended.
How common is A1298C mutation?
There are two MTHFR gene variants, called C677T and A1298C, that have been an active area of study. These variants are common. In America, about 25% of people who are Hispanic, and 10-15% of people who are Caucasian have two copies of C677T.
What is heterozygous state?
Heterozygous is a state of having inherited different forms of a particular gene from each one of your biological parents. Now, by different forms we generally mean that there are different portions of the gene where the sequence is different.
Does the MTHFR gene cause autism?
The causes and contributing factors of autism spectrum disorders (ASD) are poorly understood. One gene associated with increased risk for ASD is methylenetetrahydrofolate-reductase (MTHFR), which encodes a key enzyme in one carbon (C1) metabolism.
Is 5-MTHF methylated?
5-MTHF plays an essential role in methylation, it enables the conversion of homocysteine to methionine, the production of serotonin and melatonin, and it is indirectly involved in the synthesis of DNA.
What are the symptoms of heterozygous?
in heterozygotes has been reported together with signs of a slightly increased cerebral irritability, a possible slight increase of risk for mental disease, and an increase of blood phenylalanine levels in stress situations.