Abstract | BACKGROUND: METHODS: To define the relationships between OPA1 mutations and mtDNA backgrounds, we determined the haplogroup affiliation of 41 French patients affected by OPA1-related ADOA by control-region sequencing and RFLP survey of their mtDNAs. RESULTS: The comparison between patient and reference populations did not revealed any significant difference. CONCLUSION: Our results argue against a strong influence of mtDNA background on ADOA expression. These data allow to conclude that OPA1 could be considered as a "severe mutation", directly responsible of the optic atrophy, whereas OPA1-negative ADOA and LHON mutations need an external factor(s) to express the pathology (i.e. synergistic interaction with mitochondrial background).
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Authors | Denis Pierron, Marc Ferré, Christophe Rocher, Arnaud Chevrollier, Pascal Murail, Didier Thoraval, Patrizia Amati-Bonneau, Pascal Reynier, Thierry Letellier |
Journal | BMC medical genetics
(BMC Med Genet)
Vol. 10
Pg. 70
(Jul 20 2009)
ISSN: 1471-2350 [Electronic] England |
PMID | 19619285
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- DNA, Mitochondrial
- GTP Phosphohydrolases
- OPA1 protein, human
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Topics |
- Cohort Studies
- DNA, Mitochondrial
(genetics)
- France
- GTP Phosphohydrolases
(genetics)
- Haplotypes
- Heterozygote
- Humans
- Mutation
- Optic Atrophy, Autosomal Dominant
(genetics)
- Optic Atrophy, Hereditary, Leber
(genetics)
- Polymorphism, Restriction Fragment Length
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