438. In Vitro Studies towards the Development of a Recombinant Adeno-Associated Virus for the Treatment of Medium-Chain Acyl-CoA Dehydrogenase Deficiency

Abstract

Neuropathy Ataxia and Retinitis Pigmentosa (NARP) is a maternally inherited disease that leads to various types of retinopathies as well as dementia and skeletal muscle weakness. It is caused by point mutations in the mitochondrial gene ATP6, which encodes one of the subunits of ATP synthase. Manfredi et al (2002) have already shown rescue of this defect in human cells in culture using a mitochondrially targeted nuclear encoded version of the ATP6 protein. There are currently no animal models of this disease, so we are developing a mouse model using an AAV-vectored ribozyme imported into mitochondria to disrupt the ATP6 mRNA.