Recessive parkinsonism and mitochondrial function

National Institute On Aging

Investigators

Linked publications, trials & patents

Abstract

We have been working on how mitochondrial function influences neuronal survival, particularly in the context of inherited forms of parkinsonism. To this end, we have been examining accelerated aging models including one with a mutation in the mitochondrial polymerase gamma that diminishes proofreading activity of the enzyme, leading to accumulation of mitochondrial DNA mutations., Using a combination of RNA-sequencing and proteomics, we found a long-term disruption of mitochondrial complex I components in mice carrying these mutations. To date, these animals have not shown any dopaminergic cell loss, suggesting that the effect on mitochondrial function is not sufficient to trigger neurodegeneration.