Research article

Mitochondrial oxidative phosphorylation in autosomal dominant optic atrophy

Vladimir I Mayorov¹ , Angela J Lowrey¹ , Valerie Biousse² , Nancy J Newman² , Susan D Cline¹ and Michael D Brown³

¹  Division of Basic Medical Sciences, Mercer University School of Medicine, 1550 College St., Macon, GA 31207, USA

²  Department of Ophthalmology and Neurology, Emory University School of Medicine, Emory Eye Center, 1365-B Clifton Road NE, Atlanta, GA 30322, USA

³  The Coca-Cola Company, Coca-Cola Plaza, Atlanta, GA 30301, USA

author email corresponding author email

BMC Biochemistry 2008, 9:22doi:10.1186/1471-2091-9-22

Published:	10 September 2008

Abstract

Background

Autosomal dominant optic atrophy (ADOA), a form of progressive bilateral blindness due to loss of retinal ganglion cells and optic nerve deterioration, arises predominantly from mutations in the nuclear gene for the mitochondrial GTPase, OPA1. OPA1 localizes to mitochondrial cristae in the inner membrane where electron transport chain complexes are enriched. While OPA1 has been characterized for its role in mitochondrial cristae structure and organelle fusion, possible effects of OPA1 on mitochondrial function have not been determined.

Results

Mitochondria from six ADOA patients bearing OPA1 mutations and ten ADOA patients with unidentified gene mutations were studied for respiratory capacity and electron transport complex function. Results suggest that the nuclear DNA mutations that give rise to ADOA in our patient population do not alter mitochondrial electron transport.

Conclusion

We conclude that the pathophysiology of ADOA likely stems from the role of OPA1 in mitochondrial structure or fusion and not from OPA1 support of oxidative phosphorylation.