Segregation pattern and biochemical effect of the G3460A mtDNA mutation in 27 members of LHON family
Jazyk angličtina Země Nizozemsko Médium print
Typ dokumentu srovnávací studie, časopisecké články, práce podpořená grantem
PubMed
15337616
DOI
10.1016/j.jns.2004.05.001
PII: S0022510X04001443
Knihovny.cz E-zdroje
- MeSH
- alanin genetika MeSH
- analýza rozptylu MeSH
- bodová mutace * MeSH
- glycin genetika MeSH
- Leberova atrofie zrakového nervu krev genetika MeSH
- lidé MeSH
- longitudinální studie MeSH
- mitochondriální DNA krev genetika MeSH
- mutační analýza DNA metody MeSH
- NAD krev MeSH
- oxidoreduktasy krev MeSH
- rodokmen MeSH
- rotenon MeSH
- zdraví rodiny * MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- srovnávací studie MeSH
- Názvy látek
- alanin MeSH
- glycin MeSH
- mitochondriální DNA MeSH
- NAD MeSH
- oxidoreduktasy MeSH
- rotenon MeSH
Inheritance and expression of mitochondrial DNA (mtDNA) mutations are crucial for the pathogenesis of Leber hereditary optic neuropathy (LHON). We have investigated the segregation and functional consequences of G3460A mtDNA mutation in 27 members of a three-generation family with LHON syndrome. Specific activity of respiratory chain complex I in platelets was reduced in average to 56%, but no direct correlation between the mutation load and its biochemical expression was found. Heteroplasmy in blood, platelets and hair follicles varied from 7% to 100%. Segregation pattern exhibited tissue specificity and influence of different nuclear backgrounds in four branches of the pedigree. Longitudinal analysis revealed a significant (p=0.02) decrease in blood mutation load. Although enzyme assay showed reduction of complex I activity, our results give additional support to the hypothesis that expression of LHON mutation depends on complex nuclear-mitochondrial interaction.
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