Pantothenate kinase-associated neurodegeneration is an autosomal recessive disorder caused by mutations in PANK2, and is characterized by retinal degeneration and progressive loss of motor and cognitive skills. PANK2 encodes forÂ pantothenate kinase localized to the mitochondria, and isÂ the first enzyme required for de novo synthesis of CoA. AÂ drosophila model of this disorder has been shown to have reduced levels of CoA, abnormal mitochondrial function, and abnormalÂ protein acetylationÂ (Rana et al, Proc Natl Acad Sci U S A. 2010 April 13; 107(15): 6988â€“6993.; Siudeja,Â EMBO Mole Med 2011 Dec;3(12):755-66.)Â . The authors report that the phenotype can be partly rescued by administration of a dimeric form of pantothenic acid, which has interesting potential implications for both the role of CoA in the mitochondria as well as treatment of this disease.
Hilary Vernon, MD PhD