ETFB gene

[aquariusgirl]

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I just installed a gene report on Livewello that seems to suggest I have some genetic weaknesses with the electron transport flavoprotein beta polypeptide gene.

A quick google reveals related conditions are (see below). Also, this gene has come up in autism research & I read that GAII has been associated with fatty infiltraition of the liver. And I have fatty liver.

• Glutaric Acidemia Type Ii

• Glutaric Acidemia Iib

• Glutaric Acidemia Iic

• Glutaric Acidemia Iia

• Lipid Storage Disease

Has this come up before?

 

[pattismith]

if you look on ENLIS, you will see that:

rs3786625 is on INTRON (no impact on protein coding) and the minor allele (A) frequency is 36% so rather common.
I am too homozygous for this one.

rs12985380 is also on INTRON and the minor allele (A) is also common, and I am too homozygous for this one.

I went on my raw datas via 23andme and did'nt find any f the other snp in your list, so I can't say if any is relevant.

Did you run the ETFB gene in your ENLIS?

 

[aquariusgirl]

No. how would i do this?

 

[aquariusgirl]

does anyone know if it's rare to have 8 DNA variations on one gene?

 

[pattismith]

does anyone know if it's rare to have 8 DNA variations on one gene?

Yes it can happen, most variations will not have any clinical significance.
a single gene contains hundreds or thousands snp, so you are likely to have many variations;

The more 23andme will give you snp in a gene, the more you will find variations.

So you have to target and screen what you are looking for, and Enlis is a powerful tool to do it.

Here the way you can screen the ETFB gene via Enlis.

First you will open the window "gene category or gene list" like below you choose "gene symbol" and write the name of the gene you are looking for, and then you click on the "go" button:

You can see my variations are all on INTRON and with a allele frequency above 30 %

So they are unlikely to cause any problem.

If you want a better screening, you will open two other windows:
"allele frequency" (choose 1 or 2% for example)
"protein impact" (you can choose everything in this window)

Then you click on "go" button, and you will see nothing relevant is showing up anymore:

 

[aquariusgirl]

So can we disregard everything that is not protein coding?

My mom had 28 rare DNA variations in GSTM2...but I think they were all on an intron. Junk DNA?

Yeah. I did an Enlis search on GTSM2 gene and nothing popped up...so I guess I disregard it.

 

[grapes]

I have done four OAT tests, 2015, 16, 18 and 19....and all showed that I don't break protein well. It was also implied in the OAT results that I don't break down fats well. I also crash easily if I do too much and it takes days to recover from.

So I looked more closely at the genes related to Glutaric Acidosis. Only for the ETFB gene, I have four homozygous. Two that I have are those mentioned above which are stated to have no impact on protein breakdown. But two others make me wonder. They are rs3786629 and rs11084071. Of course when you look these up, the information is so lacking.

Livewello says they are "associated with" the below, but not necessarily with the snp.

Glutaric Acidemia Type Ii
Glutaric Acidemia Iib
Glutaric Acidemia Iic
Glutaric Acidemia Iia
Lipid Storage Disease
Neutral Lipid Storage Disease
Systemic Primary Carnitine Deficiency Disease
Multiple Acyl-Coa Dehydrogenation Deficiency, Mild Type
Multiple Acyl-Coa Dehydrogenation Deficiency, Severe Neonatal Type

I had already been on high dose carnitine for a good two years. Didn't change a thing. I am now on B2, still on a lower dose of carnitine, and getting glycine from using protein powder. Yes, I'm trying protein powder which is already broken down...I figured why not try it, as everything I read is about this "not breaking down protein well for the mito". So I thought if protein powder is already broken down, why not see if it helps.

Also, all in the OAT that implied I wasn't breaking down fat well was reversed just by being on Bile--that was revealed by the OAT last January. My gallbladder seems to have gone kaput. No pain, just not doing a thing that I can tell.

So I'm trying to figure all this out.

 

[sometexan84]

Looks like ETFB mutations are related to "Mitochondrial energetic impairment" - https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61786