At which temperature (bodily and external) the MTHFR enzyme, a result of heterozygous C677T mutation, becomes thermolabile, i.e.inactive? Thank you.
N/A. The mutation which causes dysfunction of the MTHFR enzyme is genetic - it doesn't happen because of a variation in body temperature. The rare disorder that this causes is characterized by a possibility of inappropriate clot formation, which can result in stroke or heart attack. However, a person proven to have this mutation may never actually experience such a thrombotic event. .
>37 Degrees C. Over 37 degrees, http://www.machaondiagnostics.com/education/display.asp?id=14&type=d.
MTHFR temperature. Interesting question - the best answer I found was MTHFR with either a C677T or A1298 mutation becomes heat labile at temperatures greater than 37 C. Thus as the temperature goes above this - homocysteine starts to accumulate due to lack of enzyme activity . Hope this helps.
Likely not much. The existing evidence does not support any strong connection between heterozygotes for either the c or a mutations of mthfr and poor pregnancy outcomes. Homozygotes may well be at greater risk. Depending on clinical history, different levels or surveillance and possible intervention can be considered. Read more...
No. Screening everybody for polymorphisms at this locus has been promoted by a big-money lab. The test is pricey and not standard, but lawyer-shy physicians may feel they need to test everybody. A majority of women are told they have a health problem. I believe this is unfortunate and that real mthfr disease is extremely rare. Read more...