MCM8

There are 4 papers on MCM8 in aging research: 2 observational studies in people, 1 in animals, 1 review.

Gene

4 papers study it2 findings

HGNCNCBI GeneTaxon

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“Three of 155 (2%) participants carried possibly damaging heterozygous variants in MCM8, whereas 7 of 151 (5%) individuals carried possibly damaging heterozygous variants in MCM9.”
MCM8 and MCM9 Nucleotide Variants in Women With Primary Ovarian InsufficiencyThe Journal of clinical endocrinology and metabolism2016doi:10.1210/jc.2016-2565

None of its findings points the other way.

  • 2 independent labs in 2 countries
  • Funders: Cancer Research UK and 4 more
  • Humans2
  • Model organisms1

Effects

1

mtDNA mutations

downin human cells1

1 study
  1. MCM8 decreases mtDNA mutations in human cells.

    “MCM8, the human ortholog of REC, also localizes to mitochondria and limits the accumulation of mtDNA mutations.”

    Cells

    REC drives recombination to repair double-strand breaks in animal mtDNA

    The Journal of cell biology

More on mtDNA mutations

Associations

1

Primary ovarian insufficiency

upin humans1

1 study
  1. MCM8 is associated with primary ovarian insufficiency in humans (diagnosed prior to age 40 years) (2% in MCM8, 5% in MCM9).

    “Three of 155 (2%) participants carried possibly damaging heterozygous variants in MCM8, whereas 7 of 151 (5%) individuals carried possibly damaging heterozygous variants in MCM9.”

    Humansdiagnosed prior to age 40 yearsfemalesn = 155

    MCM8 and MCM9 Nucleotide Variants in Women With Primary Ovarian Insufficiency

    The Journal of clinical endocrinology and metabolism

More on Primary ovarian insufficiency

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