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Report provided to the Human Fertilisation and Embryology Authority, April 2011 - page 26 / 45

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LHON

deafness Optic neuropathy

Myopathy and diabetes

Myopathy, weakness, diabetes Deafness

Sensorineural hearing loss

Exercise intolerance Fatal, infantile encephalopathy; Leigh/Leigh-like syndrome

Fatigue, muscle weakness Encephalopathy, lactic acidosis

3460G>A

ND1

11778G>A

ND4

14484T>C

ND6

14709T>C

TRNE

1555A>G Individual mutations Individual mutations 10158T>C; 10191T>C

RNR1 TRNS1

CYB

ND3

Heteroplasmic or homoplasmic Hetero- or homoplasmic

Maternal

Maternal

Homoplasmic Hetero- or homoplasmic Heteroplasmic

Maternal

Sporadic

Heteroplasmic

Sporadic

CPEO, chronic progressive external opthalmoplegia; MELAS, mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; MERFF, myoclonic epilepsy and ragged-red fibres; NARP, neurogenic weakness, ataxia and retinitis pigmentosa; MILS, maternally inherited Leigh syndrome; MIDD maternally-inherited diabetes and deafness; LHON, Leber hereditary optic neuropathy. TRN genes encode tRNAs; RNR1 encodes 12S ribosomal RNA, all other genes encode proteins required for OxPhos.

Adapted from Taylor and Turnbull (2005)22

22 R. Taylor and D. Turnbull (2005) “Mitochondrial DNA mutations in human disease.” Nat Rev Genet. 6(5): 389– 402 Author manuscript; available in PMC 2007 January 4.6(5):389-402.

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