Knockdown of <i>APOPT1/COA8</i> Causes Cytochrome <i>c</i> Oxidase Deficiency, Neuromuscular Impairment, and Reduced Resistance to Oxidative Stress in <i>Drosophila melanogaster</i>.

ABSTRACT: Cytochrome c oxidase (COX) deficiency is the biochemical hallmark of several mitochondrial disorders, including subjects affected by mutations in apoptogenic-1 (APOPT1), recently renamed as COA8 (HGNC:20492). Loss-of-function mutations are responsible for a specific infantile or childhood-onset mitochondrial leukoencephalopathy with a chronic clinical course. Patients deficient in COA8 show specific COX deficiency with distinctive neuroimaging features, i.e., cavitating leukodystrophy. In human cells, COA8 is rapidly degraded by the ubiquitin-proteasome system, but oxidative stress stabilizes the protein, which is then involved in COX assembly, possibly by protecting the complex from oxidative damage. However, its precise function remains unknown. The CG14806

SUBMITTER: Brischigliaro M 

PROVIDER: S-EPMC6742693 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature