Document Detail

Molecular basis of mitochondrial myopathies: polypeptide analysis in complex-I deficiency.
MedLine Citation:
PMID:  2893919     Owner:  NLM     Status:  MEDLINE    
Clinical and biochemical data are reported for three patients with mitochondrial myopathy. One patient presented only with exercise-induced muscle weakness, whereas the other two showed signs of multisystem disease. Polarographic determination of oxygen uptake in skeletal muscle mitochondria suggested complex-I (nicotinamide adenine dinucleotide [reduced] ubiquinone oxidoreductase) deficiency. Sodium dodecyl sulphate polyacrylamide gel electrophoresis and immunoblotting with antibody to the holoenzyme of complex-I and specific antibodies to certain of the Fe-S subunits of complex-I showed a relatively normal profile in the least affected patient and a generalised reduction in the intensities of all crossreacting bands in the other two patients. The most severely affected patient also showed a disproportionate and pronounced reduction in the 24 K Fe-S subunit. Clinical severity of muscle involvement correlated with the biochemical deficiency as determined polarographically and with the immunoblot appearances.
A H Schapira; J M Cooper; J A Morgan-Hughes; S D Patel; M J Cleeter; C I Ragan; J B Clark
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Lancet     Volume:  1     ISSN:  0140-6736     ISO Abbreviation:  Lancet     Publication Date:  1988 Mar 
Date Detail:
Created Date:  1988-04-07     Completed Date:  1988-04-07     Revised Date:  2009-09-29    
Medline Journal Info:
Nlm Unique ID:  2985213R     Medline TA:  Lancet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  500-3     Citation Subset:  AIM; IM    
Institute of Neurology, Queen Square, London.
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MeSH Terms
Mitochondria, Muscle / metabolism*
Muscular Diseases / metabolism*,  physiopathology
NAD(P)H Dehydrogenase (Quinone)
Oxygen Consumption
Quinone Reductases / deficiency*
Grant Support
//Wellcome Trust
Reg. No./Substance:
EC Dehydrogenase (Quinone); EC 1.6.99.-/Quinone Reductases

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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