Functional consequences of mitochondrial DNA haplogroup W

Summary

Mitochondrial disorders are genetically determined metabolic diseases which affect 1 in 5000 of the UK population. The symptoms, signs and severity of mitochondrial disorders vary significantly, even within families, and range from devastating, fatal, infant-onset multi-system disorders to late onset, isolated symptoms, such as visual issues, deafness or diabetes. There is currently no cure for mitochondrial disease and treatment is focused on relieving symptoms.

Mitochondria are responsible for producing the energy our cells need to function properly. They contain their own DNA called mitochondrial DNA (mtDNA), a small circular molecule containing 37 genes involved in energy production.

Different populations have different amounts of this mitochondrial DNA, known as mtDNA copy number. There is an emerging association between mtDNA levels and common complex disorders. In this study, we aim to learn more about what is controlling the levels of mtDNA in any given cell, and how those cells function normally with lower levels of mtDNA.

These findings will have important implications for our understanding of mitochondrial function in both human health and disease states.