CORDIS Project
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This project investigates the inheritance of mitochondrial DNA mutations and their role in age-related diseases using mouse models. It aims to clarify how these mutations are passed from mother to offspring and their impact on health, contributing to better genetic counseling and understanding of mitochondrial biology.
Mutations of mtDNA cause mitochondrial diseases and are heavily implicated in the pathophysiology of age-associated diseases and ageing.
Low levels of mtDNA mutations are universally present in somatic tissues of all humans and mtDNA mutations have been reported to contribute to age-associated diseases.
Somatic mutations of mtDNA often arise during the massive mtDNA replication in embryogenesis and can accumulate postnatally by clonal expansion.
Furthermore, ongoing mtDNA replication during adul…
KAROLINSKA INSTITUTET
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