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Genetics Respiratory chain Cellular effect Patient

J polymorphisms. « Mild » mutations. « Severe » mutations. Mutations on OPA1 (nuclear gene). 15257,14798 (cytB, mtDNA). unknown nuclear gene OPA1-negative patients. G11778A (ND4, mtDNA). T14484C (ND6, mtDNA). G3460A (ND1, mtDNA). Genetics Respiratory chain Cellular effect

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Genetics Respiratory chain Cellular effect Patient

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  1. J polymorphisms « Mild » mutations « Severe » mutations Mutations on OPA1 (nuclear gene) 15257,14798 (cytB, mtDNA) unknown nuclear gene OPA1-negative patients G11778A (ND4, mtDNA) T14484C (ND6, mtDNA) G3460A (ND1, mtDNA) Genetics Respiratory chain Cellular effect Patient Electron transport activity Slightly reduced (<25%) Electron transport activity CI Reduced (60-80%) Q cycle altered Amplification of the defect Decrease of proton gradient Decrease of Fusion mecanism Decrease of ATP production Apoptotic cell death (RGC) Over-representation of haplogroup J No difference with control population ADOA Present study LHON Brown et al. 1997; Hofmann et al. 1997; Lamminen et al. 1997; Torroni et al. 1997; Carelli et al. 2006 ADOA Han et al 2006 OPTIC ATROPHY

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