| Title: | The role of mitochondrial DNA variants in common disease |
| Lead Institution: | University of Cambridge |
| Principal investigator: | Professor Patrick Chinnery |
Application 18794
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About
Genetic variation of maternally inherited mitochondrial DNA (mtDNA) has been associated with several common human diseases, including hypertension, cardiovascular disease, dementia, diabetes, deafness, glaucoma and stroke. However, many of the published studies are under-powered, and only some have been independently replicated. We helped design the UK BIobank Axiom Array by adding the main mtDNA variants. Our aim is to validate or refute the published genetic associations between mtDNA and common human diseases phenotyped through UK Biobank, and preform exploratory analysis to look for new associations with mtDNA variation. This work will determine whether inherited variation of mtDNA makes an important contribution to the pathogenesis of these common human diseases. We will compare the frequency of the genetic variants in different groups based on the phenotype data to determine whether mtDNA is associated with these phenotypes. Full cohort.1 Publication
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 12897 | Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency | Denisa Hathazi (+37) | 2020 | The EMBO Journal |
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