medicine

This is an economically important measurement in terms of health protection

 

The MTHFR gene writes the code for the synthesis of 5,10 methylene tetrahydrofolate reductase. The enzyme puts a methyl group on the homocysteine molecule, turning it into methionine.
 
It is located on Chromosome 1 (Cr 1 p 36.3)
A point mutation 677C->T results in a 50% reduction in the enzyme activity. This enzyme is described as thermolabile.
This is an autosomal recessive gene present in 5-12% of the population.
 
One study in France showed 16.9% prevalence there.
I find about 10% here in SA. 
So this situation appears to be about 10% of a Caucasian population and it is this, which is associated with the risks of vascular disease, thrombosis and neural tube defects in babies of affected mothers.  
Another mutation is at A1298C.
When associated with the C677T mutation there is also an increased risk of thromboembolism.
 
It is also important to find this situation in a woman before she embarks upon pregnancy, as the supplements below will protect her and her babies.
 
Evidence suggests that high homocysteine has adverse effects on vessels, neural tissue and perhaps joints. As well it slightly increases the risk of thrombotic events by inhibiting tissue plasminogen activator (tPA.)

Telomeres appear to shorten faster in persons with high homocysteine levels!

 

In early Alzheimer’s disease, high homocysteine levels are adverse, as adding folate improves brain function in this group.
 
An increase by 5 umol/L above normal, increases the coronary and stroke risk by between 50 and 80%.

It is also associated with increased shortening of telomeres!
 
Perhaps low methionine levels in the brain are also a disadvantage.
 
 If positive, the majority can be corrected by about 1 mgm of folic acid a day and if they fail to respond to that, extra B12 and trimethylglycine can be added.
 
For refractory cases, I recommend folic acid 2.5mg per day, methyl cobalamin 400mcg/day, trimethyl glycine 600mg/day and pyridoxal 5 phosphate 5-10 mg /day.
 
A product called Methylguard, is made by Thorne Research Inc, Dover in Idaho, USA gives close to ideal amounts in one capsule per day.
 
Homocysteine levels are measured before treatment and 1 monthly until they are reduced to 8 umol/L (or less)
 
People can be tested by having blood taken (fasting and kept cold) for homocysteine, folic acid, B12 and the MTHFR gene status.

 

If a person is positive, relatives should be tested!