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LHON mutations in Italian patients affected by multiple sclerosis
V Leuzzi1, C Carducci, M Lenza
1Dipartimento di Scienze Neurologiche e Psichiatriche dell'Età Evolutiva, University La Sapienza, Roma, Italy.
Acta Neurologica Scandinavica
|September 23, 1997
Summary
Mitochondrial DNA mutations linked to Leber hereditary optic neuropathy (LHON) do not appear to increase susceptibility to multiple sclerosis (MS). This study found no evidence supporting a genetic link between primary LHON mutations and MS in the Italian population.
Area of Science:
- Genetics
- Neurology
- Mitochondrial Diseases
Background:
- Mitochondrial DNA (mtDNA) mutations, specifically those causing Leber hereditary optic neuropathy (LHON), have been implicated in multiple sclerosis (MS)-like phenotypes.
- This has raised questions about the potential role of mitochondrial genes in MS susceptibility.
Purpose of the Study:
- To investigate the association between primary LHON mutations (11778, 3460, 14484) and a secondary mutation (15257) with multiple sclerosis in an Italian cohort.
- To determine if these specific mtDNA mutations contribute to genetic susceptibility for MS.
Main Methods:
- Genotyping of 74 Italian MS patients and 99 healthy controls for primary and secondary LHON mutations.
- Analysis included patients with early and prominent optic nerve involvement.
Main Results:
- One MS patient was found to carry a homoplasmic LHON mutation at np 11778; this mutation was also present in their mother.
- No other primary LHON mutations were detected in MS patients or controls.
- The 15257 mutation was found in 5.4% of MS patients and 5.1% of controls, with no significant difference.
Conclusions:
- Primary LHON mutations do not appear to contribute to genetic susceptibility for multiple sclerosis in the studied Italian population.
- The 15257 mutation shows no evidence of pathogenetic significance in Italians regarding MS.