MCM8
There are 4 papers on MCM8 in aging research: 2 observational studies in people, 1 in animals, 1 review.
“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.”
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
1mtDNA mutations
downin human cells1
1 study
mtDNA mutations
downin human cells1
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
Associations
1Primary ovarian insufficiency
upin humans1
1 study
Primary ovarian insufficiency
upin humans1
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
Latest
Einstein
Investigation of an MCM8 gene variant in women with premature ovarian insufficiency
Case-control study of 100 peopleReproductive system
The Journal of Cell Biology
REC drives recombination to repair double-strand breaks in animal mtDNA
Experiments in fliesMechanisms
The Journal of Clinical Endocrinology and Metabolism
MCM8 and MCM9 Nucleotide Variants in Women With Primary Ovarian Insufficiency
Cohort study of 155 peopleReproductive system