Article
Fifteen novel mutations in the mitochondrial NADH dehydrogenase subunit 1, 2, 3, 4, 4L, 5 and 6 genes from Iranian patients with Leber's hereditary optic neuropathy (LHON).
Molecular biology reports - 1 Dec 2013
Rezvani Zahra, Didari Elmira, Arastehkani Ahoura, Ghodsinejad Vadieh, Aryani Omid, Kamalidehghan Behnam, Houshmand Massoud
Abstract excerpt
Leber's hereditary optic neuropathy (LHON) is an optic nerve dysfunction resulting from mutations in mitochondrial DNA (mtDNA), which is transmitted in a maternal pattern of inheritance. It is caused by three primary point mutations: G11778A, G3460A and T14484C; in the mitochondrial genome. These mutations are sufficient to induce the disease, accounting for the majority of LHON cases, and affect genes that...
Topics
- Genetic Predisposition to Disease
- Humans
- Iran
- Male
- Mitochondria
- Mutation
- NADH Dehydrogenase
- Optic Atrophy, Hereditary, Leber
- Polymerase Chain Reaction
- Protein Subunits
- Young Adult