GeneChat

Mitochondria in red on 23andme


#1

Hi. I had the 23andMe gene test done and noticed almost all the section for mitochondrial genes were in the red. Can anyone tell me what that means? Was I born with that or
Could they become red due to diet or environment? Is there something I should be doing? Lol. I find it so confusing.


#2

The colors on the variance report don’t mean anything in a clinical context. In order words, red does not mean bad and green does not mean good. You have to take each individual SNP and consider it in the context of a specific trait that was evaluated in a genome wide study. Eg. One study might show that +/+ (red) mutation causes an undesirable effect, while another study will show that the same +/+ mutation could lead to a different desirable trait.


#3

I’ll reply to this 1 first. Yes… your genotype reflects what is in your inherited DNA. However, whether or how a gene expresses in a person can indeed be influenced by environmental & behavioral factors (such as diet, exposure to toxins, etc.) “Epigenetics” is the (relatively new) study of such influences and how gene functions can effectively be switched on or off.

So, just as good genes don’t guarantee one won’t develop disease, “bad” genes, while increasing possible risk of some condition(s) don’t guarantee them, and may be countered or exacerbated by such things as nutritional inputs, exercise, stress factors, etc.

I haven’t used 23andMe myself so am not familiar with their reports. But to add on to Johan’s reply, generally speaking, when looking at a Gene Variance report, gene variances marked red (and phenotype shown as “++” ) means that the person is homozygous for (has 2 copies of) the less-common genotype for a particular SNP (coding region or gene segment). In some reports (such as Livewello), when the genotype shows only 1 copy of the variant, it is highlighted in yellow; and said to be " heterozygous" for the variant…

While some variants are clearly associated (in genomic studies) with disease conditions and considered therefore a risk factor (sometimes that is quantified in the studies), as Johan says, you can’t just draw a conclusion about any condition just by that high-level observation. I’ve even noted that sometimes a “homozygous” SNP is flagged as a variant by one system / database, while considered “normal” in another. And in fact, sometimes a SNP considered “Variant” is actually fairly common - anything found to be less than 50% of the population could theoretically be flagged as hetero- or homozygous.

In reporting on health associations, the various services all rely to some extent on GWAS (Genome Wide Area Studies) database, which compiles the various research on gene associations.with disease conditions…which while impressive is probably in its relative infancy. On many occasions, you might find a SNP that is shown as associated with some health condition, but when you look more closely the reason for the association is pretty unclear / ambiguous.

What I do is take the high-level report, download it and then use it as the basis for further inquiry. I will, for example, query Livewello.com (anyone can do this if they have uploaded DNA raw data there) by SNP “RSID” (the identifier for the particular segment of a gene) for specific information about your genotype and its associatons. Promethease also provides a downloadable report (in XML file format) that allows you to filter / query for various genes. I use both of these in tandem, especially if there is some ambiguity about the meaning of a variant.
I then follow up by reading the extracts of summaries of various gene association studies related to either those Genes, SNPS and/or disease linkages.
.
So the bottom line w/rt/ to this question is DON’T PANIC! If you seem multiple “red” SNPs in, say, the mitochondrial function area, it does merit further scrutiny/analysis. But you need to look much more deeply at what it says. And there may be (as Johan said), other gene SNPs , some unreported, that may counterbalance the effect of those “in the red”.

If on the other hand, you are clearly experiencing some health problem and/or have been given a diagnosis by a doctor that seems related to what you see on the Variance Report, by all means bring it up with your doctor. Of course, not all doctors are knowledgeable about such issues as mitochondrial function and or other cellular-metabolic conditions. I consult with a functional medicine specialist … not easy to find, I know…and he looks at such underlying conditions and while he isn’t a genetic expert he understands the connections.


#4

Wow thank you all so much!!! I belong to livewello as well as promethease and will start looking up the individual SNPs as you all have said. I don’t have a specific disease now but I was Always sick as a kid. Rheumatic fever twice and strep all the time. Now my daughter has an autoimmune disease called vasculitis but they aren’t sure yet what kind. My sisters son has retinitis pigmentosa. My main concern was trying to find out why my family has so many strokes. My mom died from multi infarct dementia. Her dad had it too as well as her three sisters and her brother. The oldest sister was the only one who didn’t get dementia and lived to like 90 lol. I’m not panicking over the mitochondria- but was wondering if it was bad if there was anything I should or could be doing to make it better lol. It’s impossible to find a doctor who knows this stuff or doesn’t scoff at it. I have homozygous mthfr C677T and had a baby with acrania years ago and actually had the doctor tell me just to take more regular folic acid! Ugh. Thanks for all your help! I appreciate it.