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HLA class I genotypes in Leber's hereditary optic neuropathy
R M Chalmers1, G G Govan, A H Schapira
1University Department of Clinical Neurology, Institute of Neurology, London, UK.
Journal of the Neurological Sciences
|February 1, 1996
Summary
Mitochondrial peptides may influence immunity, but this study found no link between human leukocyte antigen (HLA) genotypes and Leber's hereditary optic neuropathy (LHON). Classical human leukocyte antigen class I loci do not appear to determine blindness in LHON.
Area of Science:
- Immunology
- Genetics
- Ophthalmology
Background:
- Mitochondrial DNA (mtDNA)-encoded peptides are known to modulate immune responses in rodents.
- These peptides are presented by major histocompatibility complex (MHC) class I molecules.
- A potential autoimmune component in Leber's hereditary optic neuropathy (LHON) warrants investigation.
Purpose of the Study:
- To investigate the association between specific human leukocyte antigen (HLA) genotypes and Leber's hereditary optic neuropathy (LHON).
- To determine if classical class I MHC loci play a role in the pathogenesis of LHON.
Main Methods:
- Genotyping of HLA-A and two HLA-B loci was performed.
- Analysis was conducted on index cases from 77 families affected by LHON.
Main Results:
- No significant association was found between LHON and the investigated HLA-A or HLA-B genotypes.
- The frequency of specific genotypes did not correlate with the presence of the disease.
Conclusions:
- Classical class I MHC loci are not identified as major determinants for the development of blindness in Leber's hereditary optic neuropathy.
- The findings suggest that autoimmune mechanisms involving these specific HLA loci are unlikely to be the primary cause of LHON.