CORDIS Project
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This project aims to develop a novel treatment for mitochondrial DNA mutation diseases by identifying mechanisms that control mitochondrial DNA replication. By studying the relationship between wild-type and mutated mitochondrial DNA, the research seeks to provide insights into potential therapeutic strategies.
This proposal describes a series of powerful experimental strategies to develop a completely novel treatment for mtDNA mutation disease based on identifying unknown mechanisms controlling mtDNA replication.
Several hundred different mtDNA mutations affect tRNA genes and impair mitochondrial translation leading to human disease.
There is typically heteroplasmy with a mixture of wild-type and mutated mtDNA, and the mutations are acting in a “recessive” (loss of function) way.
Very high levels of m…
KAROLINSKA INSTITUTET
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