Loss of Drosophila Coq8 results in impaired survival, locomotor deficits and photoreceptor degeneration.

ABSTRACT: Coenzyme Q8A encodes the homologue of yeast coq8, an ATPase that is required for the biosynthesis of Coenzyme Q10, an essential component of the electron transport chain. Mutations in COQ8A in humans result in CoQ10 deficiency, the clinical features of which include early-onset cerebellar ataxia, seizures and intellectual disability. The rapid advancement of massively parallel sequencing has resulted in the identification of more than 40 new mutations in COQ8A and functional studies are required to confirm causality and to further research into determining the specific mechanisms through which the mutations result in loss of function. To that end, a Drosophila model of Coq8 deficiency was developed and characterized to determine its appropriateness as a model system to further explore the

SUBMITTER: Hura AJ 

PROVIDER: S-EPMC8827264 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature