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Genetics Respiratory chain Cellular effect Patient PowerPoint PPT Presentation


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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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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

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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