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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  gene ( dCOA8 ) is the  Drosophila melanogaster  ortholog of human  COA8  encoding a highly conserved COA8 protein. We report that  dCOA8  knockdown (KD) flies show locomotor defects, and other signs of neurological impairment, reduced COX enzymatic activity, and reduced lifespan under oxidative stress conditions. Our data indicate that KD of  dCOA8  in  Drosophila  phenocopies several features of the human disease, thus being a suitable model to characterize the molecular function/s of this protein  in vivo  and the pathogenic mechanisms associated with its defects.

frontiers in physiology

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