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Mitochondrial DNA mutations in multiple sclerosis patients with severe optic involvement
U Mayr-Wohlfart1, C Paulus, A Henneberg
1Department of Pathology, University of Ulm, Germany.
Acta Neurologica Scandinavica
|September 1, 1996
Summary
Mitochondrial DNA (mtDNA) mutations, particularly secondary LHON mutations and specific tRNA(Thr) gene substitutions, may play a role in the development of multiple sclerosis (MS) with optic involvement.
Area of Science:
- Neurogenetics
- Ophthalmology
- Mitochondrial Biology
Background:
- Familial cases of multiple sclerosis (MS) show maternal transmission.
- MS is occasionally associated with Leber hereditary optic neuropathy (LHON).
- Mitochondrial DNA (mtDNA) mutations are implicated in MS etiology.
Purpose of the Study:
- Investigate the role of mtDNA mutations in MS.
- Determine if LHON mutations are present in MS patients with visual pathway alterations.
Main Methods:
- PCR amplification of mtDNA segments from 100 MS patients and 100 controls.
- Restriction enzyme analysis and DNA sequencing to identify mutations.
Main Results:
- Primary LHON mutations were not detected in MS patients.
- MS patients exhibited a higher frequency of secondary LHON mutations compared to controls.
- Two specific base pair substitutions in the mt tRNA(Thr) gene were significantly more prevalent in MS patients (p = 0.00018).
Conclusions:
- Primary LHON mutations are not characteristic of MS with optic involvement.
- Secondary LHON mutations and mt tRNA(Thr) gene substitutions may contribute to the etiology of MS with optic involvement.