The 12th Invest in ME Research Conference June, 2017, Part 2
MEMum presents the second article in a series of three about the recent 12th Invest In ME International Conference (IIMEC12) in London.
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New study: “UCLA Researchers Find New Link Between Damaged Mitochondria and Age-related Diseases”.

Discussion in 'Other Health News and Research' started by BeautifulDay, Sep 25, 2017.

  1. BeautifulDay

    BeautifulDay Senior Member

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    New study: “UCLA Researchers Find New Link Between Damaged Mitochondria and Age-related Diseases”. https://mitochondrialdiseasenews.co...ail&utm_term=0_fdcf314ce5-05476bb628-72147965

    From the article -- “UCLA researchers showed that by promoting the expression of Drp1 in middle-aged flies, cells were able to discard damaged mitochondria, keeping only the healthy mitochondria. This made the flies healthier and more energetic, while prolonging their lives”

    The protein Drp1 (dynamin-related protein 1) is encoded by the DNM1L gene. This is interesting. In looking at this gene from the view of in promoting that gene can make mitochondria more healthy, then the reverse would likely also be true. If a pathogenic mutation were to be found in the Drp1 gene, then could it cause Mitochondrial Disease.

    Take a trip over to the Mitochondrial Disease mutation database to see if the DNM1L gene is in the database.
    https://mseqdr.org/mb.php?url=genes.php

    Under “Symbol” eter DNM1L and push enter.
    Click on “dynamin 1-like”.
    Page down and click on “transcript variant 5”.
    Click on “c.1223C>A”

    Up pops genomic variant rs121908531 which is pathogenic for “Encephalopathy due to defective mitochondrial and peroxisomal fission 1”.

    23andme did not report rs121908531 for anyone in our family. I wasn’t thinking we had the gene, it’s just interesting to see what 23andme has tested for and what it hasn’t and what is hidden behind internal numbers.

    Well anyway, this is just another avenue of hope – speed up the production of good mitochondria and get rid of the malfunctioning mitochondria quicker. I’ve seen several scientific articles written on this same subject from the standpoint of different genes and different proteins. All very interesting.
     
    pattismith and Dan_USAAZ like this.
  2. Dan_USAAZ

    Dan_USAAZ

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    Phoenix, AZ
    Just got back my 23&Me results recently, but have not had a chance to research and investigate yet. I do not have a medical science background, so am a bit challenged in this area.

    My 23&Me results list the following.

    RSID Chromosome Position Genotype
    rs121908531 12 32884052 CC

    Does this mean I have the variant and may be prone to this condition (Encephalopathy due to defective mitochondrial and peroxisomal fission 1)?
     
  3. BeautifulDay

    BeautifulDay Senior Member

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    It's hard to tell with 23andme. Had the members of our extended family who tested with 23andme had a result listed for this SNP, then I'd be able to tell you. However, when we were testing, 23andme did not genotype any our family members for this snp.

    In addition, 23andme sometimes reverses the call from other genetics labs, and since there is no frequency data for this snp, that makes it even that much more complex.

    Here is my best guess. According to what I've been reading about DNM1L pathogenic mutations, people get can get seriously ill by just being heterozygous (having just one of the pathogenic mutations). If that's the case for this one, then I'd be looking for people who are AC on 23andme. https://www.omim.org/entry/603850

    SNPedia states that CC is common and that AA is the troublemaker. Therefore, if a family member was AA or AC I'd follow up further. However, even if someone is AA or AC, you've got to take 23andme results with a grain of salt until verified by a medical lab and with people who specialize in this.
    https://www.snpedia.com/index.php/Rs121908531
     
    Dan_USAAZ likes this.
  4. pattismith

    pattismith Senior Member

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    rs121908531 CC too :)
    In fact, I am homozygous for all the tested snp from the DNM1L gene (which is a good thing!)
     
    Last edited: Sep 26, 2017

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