How common is homozygous C677T?
How common is homozygous C677T?
About 30 to 40 percent of the American population may have a mutation at gene position C677T. Roughly 25 percent of people of Hispanic descent, and 10 to 15 percent of Caucasian descent, are homozygous for this variant.
What is MTHFR C677T polymorphism?
The C677T polymorphism is a point mutation at the position 677 on MTHFR gene with the substitution of cysteine to thymine nucleotide at that position. This point mutation causes the substitution of alanine to valine in the MTHFR enzyme [Rosenberg et al., 2002].
What happens if you have a mutation in the C677T gene?
MTHFR C677T homozygous = 60-70% loss of mthfr function Problems with C677T gene mutations The problems experienced by the C677T gene mutation are more likely to have elevated homocysteine. Cardiovascular disease, stroke, heart attack, and deep vein thrombosis. The family history of associated diseases is also common.
Can a homozygous gene be written as t677t?
Homozygous C677T can also be written as T677T(because there are two abnormal copies with T instead of C). Occasionally you’ll also see it written 677TT Phew! So the take-away there is MTHFR C677T means you have at least one bad copy of this gene, and if it’s called homozygous, or T677T then you have two bad copies.
What kind of mutation is MTHFR t677t?
Heterozygous mutations are MTHFR C677Tbecause there is one normal C and one abnormal T. Also occasionally written 677CT. Homozygous C677T can also be written as T677T(because there are two abnormal copies with T instead of C).
What’s the difference between homocysteine and C677T?
Research shows that regardless of how much folate you consume, homozygous C677T (T677T) subjects always have significantly lower folate levels than heterozygous C677T. Subsequently, they also have remarkably higher homocysteine concentrations than everyone else; most pronounced when folate intake is low ( 9 ).