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Genetic background affects expression of a mitochondrial mutation. (Echo).(Brief Article)
Please visit the British Journal of Ophthalmology website [www.bjophthalmol.com] For link to this Full article.
New evidence from an in vivo study supports the hypothesis that the genetic background of specific tissues can influence expression of a maternally inherited mutation causing blindness.
The study was performed in a family of four harbouring point mutation G3460A in mitochondrial DNA (mDNA), which had resulted in Leber's hereditary optic neuropathy (LHON) in the only son at age 18 years. His mother and his twin sisters were unaffected.
The proportion of mutant mDNA in whole blood, platelet and leucocyte fractions, and uroepithelial cells was …
