Homozygous Mlycd mutation?

[Msinnott]

Does anyone know anything about the MLYCD gene (rs8062640) I was just searching through my rare alleles on gedmatch and seen I am GG for this which is 11% of the population. All I found is malonyl-CoA decarboxylase involved in fatty acid oxidation for the mitochondria. Just trying to find which snp is involved in the disease or are there several. Thanks.

 

[Valentijn]

Does anyone know anything about the MLYCD gene (rs8062640) I was just searching through my rare alleles on gedmatch and seen I am GG for this which is 11% of the population. All I found is malonyl-CoA decarboxylase involved in fatty acid oxidation for the mitochondria. Just trying to find which snp is involved in the disease or are there several. Thanks.

Homozygous rate would be about 2.2%. Out of 12 ME/CFS patients I have data for, none are homozygous and 1 is heterzygous. Out of 12 controls, 0 are homozygous and 2 and heterozygous. The rest of the gene looks unremarkable as well.

 

[brenda]

I am AA for this gene.

 

[Msinnott]

Is gg the risk allele? I just ordered an oat test so I can get my malonic acid levels checked. I have always had a problem with taking my krill oil doesn't seem like my body is breaking it down.

 

[Valentijn]

Is gg the risk allele? I just ordered an oat test so I can get my malonic acid levels checked. I have always had a problem with taking my krill oil doesn't seem like my body is breaking it down.

It doesn't look like either allele is associated with any known risk. There's been no research into it. There's also no indication that it's a missense or other mutation, which are the type which are most likely to have a significant impact. But again, there's a lack of research in the area, so it's not been ruled that it's either a missense mutation or problematic.

 

[brenda]

Is gg the risk allele? I just ordered an oat test so I can get my malonic acid levels checked. I have always had a problem with taking my krill oil doesn't seem like my body is breaking it down.

I will be interested to hear what your results are as mine are:

Adipate high
Suberate high
Pyruvate high
L-lactate high
Citrate very high
Cis-Aconitate very high
Isocitrate very high
a_Ketoglutarate high
Malate high
Hydroxymethylglutarate very high

I am waiting for the results of a more recent test.

 

[Msinnott]

Brenda were those your results from your oat test? I have ordered thru greasiest plains, not sure of the turn around. I know my whole life I have had energy problems and just feeling totally wiped out and certain times. The other red flag is my cardiac problems, I was diagnosed mitral valve prolapse and tricuspid valve prolapse in 2003. A scan I had done back in 2007 says I had reduced refraction and an enlarged left ventricle. I have felt at times my heart is not pumping as strong as it can. I took some l caritine yesterday before I stumbled upon my mutation and I was so overcome with fatigue but then an hour later I got this rush and it felt as though someone stuck me in the heart with an Epi pen. My heart was beating so fast and hard for about an hour then it calmed down some. Also was very hungry yesterday. I also found this test
Acylcarnitines, Quantitative, Plasma that I will have run if my oat test shows high malonic acid.

 

[brenda]

@ Msinnott

Brenda were those your results from your oat test?

Yes from Metametrix 4 years ago. The latest is from Doctors Data and should be in soon. I have had fatigue all my life but thought it was mercury poisoning, but maybe not. I have not had tests done on my heart but know there are problems. We don't do testing on the NHS!

 

[Msinnott]

I know the test above is said to check over 20 different fatty acid defects. Not sure if they have that test in the Nhs system. It's tested for at the mayo clinic.

 

[Msinnott]

Did more research and found I am homozygous for 3 other mlycd mutations. rs12598884 TT, rs4386124 GG, and rs11649200 GG. No info on these either but found a lab that tests for them so not sure if that means they could be involved in a defiency.