HLA class II genotypes in Leber's hereditary optic neuropathy

Autor: G.G. Govan, P.R. Smith, H. Kellar-Wood, A.H.V. Schapira, A.E. Harding
Rok vydání: 1994
Předmět:
Zdroj: Journal of the neurological sciences. 126(2)
ISSN: 0022-510X
Popis: There is an association between Leber's hereditary optic neuropathy (LHON) and a multiple sclerosis-like illness, raising the possibility of autoimmune pathogenetic mechanisms in LHON. We therefore investigated the frequency of HLA-DR genotypes in members of 79 families with LHON, defined by the presence of a pathogenic mitochondrial DNA mutation. There was no association between LHON and any HLA-DR genotype. Furthermore, affected relative pairs did not share HLA genotypes more than discordant pairs. We conclude that the HLA-DR locus is not a major genetic determinant for the development of blindness in LHON.
Databáze: OpenAIRE