Gene Mediated Therapy for LHON

Leber Hereditary Optic Neuropathy (LHON) is a maternally inherited disorder that results in loss of vision during the 2nd and 3rd decades of life. The G to A transition at nucleotide 11778 in mitochondrial DNA (mtDNA) in the gene specifying the NADH dehydrogenase subunit 4 (ND4) of complex I causes half the cases.1,2 It results in an arginine to histidine substitution at amino acid 340. 3 Still approximately 45 other pathogenic point mutations in human polypeptide-coding mtDNA genes have been linked to LHON.4 Of all diseases caused by mutated mitochondria LHON is the most common.