Matches in SemOpenAlex for { <https://semopenalex.org/work/W1964501324> ?p ?o ?g. }
Showing items 1 to 61 of
61
with 100 items per page.
- W1964501324 endingPage "938" @default.
- W1964501324 startingPage "938" @default.
- W1964501324 abstract "Control over the number of mtDNA molecules per cell appears to be tightly regulated, but the mechanisms involved are largely unknown. Reversible alterations in the amount of mtDNA occur in response to stress suggesting that control over the amount of mtDNA is involved in stress-related diseases including major depressive disorder (MDD). Using low-coverage sequence data from 10,442 Chinese women to compute the normalized numbers of reads mapping to the mitochondrial genome as a proxy for the amount of mtDNA, we identified two loci that contribute to mtDNA levels: one within the TFAM gene on chromosome 10 (rs11006126, p value = 8.73 × 10−28, variance explained = 1.90%) and one over the CDK6 gene on chromosome 7 (rs445, p value = 6.03 × 10−16, variance explained = 0.50%). Both loci replicated in an independent cohort. CDK6 is thus a new molecule involved in the control of mtDNA. We identify increased rates of heteroplasmy in women with MDD, and show from an experimental paradigm using mice that the increase is likely due to stress. Furthermore, at least one heteroplasmic variant is significantly associated with changes in the amount of mtDNA (position 513, p value = 3.27 × 10−9, variance explained = 0.48%) suggesting site-specific heteroplasmy as a possible link between stress and increase in amount of mtDNA. These findings indicate the involvement of mitochondrial genome copy number and sequence in an organism’s response to stress." @default.
- W1964501324 created "2016-06-24" @default.
- W1964501324 creator A5003858079 @default.
- W1964501324 creator A5031723659 @default.
- W1964501324 creator A5090086731 @default.
- W1964501324 date "2013-11-01" @default.
- W1964501324 modified "2023-09-27" @default.
- W1964501324 title "Hepatic cirrhosis & neurological deficits in a male with de novo heteroplasmic mitochondrial DNA mutation" @default.
- W1964501324 cites W2044910458 @default.
- W1964501324 cites W2126584618 @default.
- W1964501324 cites W2134780779 @default.
- W1964501324 doi "https://doi.org/10.1016/j.mito.2013.07.102" @default.
- W1964501324 hasPublicationYear "2013" @default.
- W1964501324 type Work @default.
- W1964501324 sameAs 1964501324 @default.
- W1964501324 citedByCount "0" @default.
- W1964501324 crossrefType "journal-article" @default.
- W1964501324 hasAuthorship W1964501324A5003858079 @default.
- W1964501324 hasAuthorship W1964501324A5031723659 @default.
- W1964501324 hasAuthorship W1964501324A5090086731 @default.
- W1964501324 hasConcept C104317684 @default.
- W1964501324 hasConcept C151994961 @default.
- W1964501324 hasConcept C169415338 @default.
- W1964501324 hasConcept C180754005 @default.
- W1964501324 hasConcept C181561989 @default.
- W1964501324 hasConcept C197754878 @default.
- W1964501324 hasConcept C19811304 @default.
- W1964501324 hasConcept C24586158 @default.
- W1964501324 hasConcept C54355233 @default.
- W1964501324 hasConcept C86803240 @default.
- W1964501324 hasConceptScore W1964501324C104317684 @default.
- W1964501324 hasConceptScore W1964501324C151994961 @default.
- W1964501324 hasConceptScore W1964501324C169415338 @default.
- W1964501324 hasConceptScore W1964501324C180754005 @default.
- W1964501324 hasConceptScore W1964501324C181561989 @default.
- W1964501324 hasConceptScore W1964501324C197754878 @default.
- W1964501324 hasConceptScore W1964501324C19811304 @default.
- W1964501324 hasConceptScore W1964501324C24586158 @default.
- W1964501324 hasConceptScore W1964501324C54355233 @default.
- W1964501324 hasConceptScore W1964501324C86803240 @default.
- W1964501324 hasIssue "6" @default.
- W1964501324 hasLocation W19645013241 @default.
- W1964501324 hasOpenAccess W1964501324 @default.
- W1964501324 hasPrimaryLocation W19645013241 @default.
- W1964501324 hasRelatedWork W1970403849 @default.
- W1964501324 hasRelatedWork W1971552378 @default.
- W1964501324 hasRelatedWork W1984394238 @default.
- W1964501324 hasRelatedWork W1994422183 @default.
- W1964501324 hasRelatedWork W2013123516 @default.
- W1964501324 hasRelatedWork W2035305815 @default.
- W1964501324 hasRelatedWork W2056207603 @default.
- W1964501324 hasRelatedWork W2076144610 @default.
- W1964501324 hasRelatedWork W2111976489 @default.
- W1964501324 hasRelatedWork W40600072 @default.
- W1964501324 hasVolume "13" @default.
- W1964501324 isParatext "false" @default.
- W1964501324 isRetracted "false" @default.
- W1964501324 magId "1964501324" @default.
- W1964501324 workType "article" @default.