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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2001-1-17
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pubmed:abstractText |
Defects in myocardial bioenergetics have been reported in patients with cardiomyopathy but their molecular basis and role in pathophysiology remain unclear. We sought to establish a molecular basis for cardiac mitochondrial respiratory enzyme abnormalities frequently present (75%) in a group of 16 children (including 2 neonates) with end-stage cardiomyopathy. Decreased specific activity levels were found in complexes I, III, IV and V but not in II, the only complex that is entirely nuclear encoded. Sequence analysis of cardiac mtDNA revealed 4 patients harbouring heteroplasmic mtDNA mutations in cytb, tRNAArg, and ND5 at highly conserved positions. These mutations were present neither in controls nor in patients without enzymatic defect. In addition, 4 patients exhibited marked reduction in cardiac mtDNA levels. The basis for respiratory enzyme abnormalities can be explained in a subset of our patients as a result of either pathogenic mtDNA mutation or depletion. Patients harbouring both DNA and enzymatic defects fulfil rigorous criteria defining mitochondrial cardiomyopathy.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Adenosine Triphosphatases,
http://linkedlifedata.com/resource/pubmed/chemical/Carrier Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Cytochrome b Group,
http://linkedlifedata.com/resource/pubmed/chemical/DNA, Mitochondrial,
http://linkedlifedata.com/resource/pubmed/chemical/Electron Transport Complex I,
http://linkedlifedata.com/resource/pubmed/chemical/Electron Transport Complex III,
http://linkedlifedata.com/resource/pubmed/chemical/Membrane Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/NADH, NADPH Oxidoreductases,
http://linkedlifedata.com/resource/pubmed/chemical/RNA, Transfer, Arg,
http://linkedlifedata.com/resource/pubmed/chemical/oligomycin sensitivity-conferring...
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
0141-8955
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
23
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
625-33
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pubmed:dateRevised |
2007-3-21
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pubmed:meshHeading |
pubmed-meshheading:11032337-Adenosine Triphosphatases,
pubmed-meshheading:11032337-Adolescent,
pubmed-meshheading:11032337-Cardiomyopathies,
pubmed-meshheading:11032337-Carrier Proteins,
pubmed-meshheading:11032337-Child, Preschool,
pubmed-meshheading:11032337-Cytochrome b Group,
pubmed-meshheading:11032337-DNA, Mitochondrial,
pubmed-meshheading:11032337-Electron Transport Complex I,
pubmed-meshheading:11032337-Electron Transport Complex III,
pubmed-meshheading:11032337-Female,
pubmed-meshheading:11032337-Gene Deletion,
pubmed-meshheading:11032337-Humans,
pubmed-meshheading:11032337-Infant,
pubmed-meshheading:11032337-Infant, Newborn,
pubmed-meshheading:11032337-Male,
pubmed-meshheading:11032337-Membrane Proteins,
pubmed-meshheading:11032337-Mitochondria, Heart,
pubmed-meshheading:11032337-Mitochondrial Myopathies,
pubmed-meshheading:11032337-Mutation,
pubmed-meshheading:11032337-NADH, NADPH Oxidoreductases,
pubmed-meshheading:11032337-RNA, Transfer, Arg,
pubmed-meshheading:11032337-Sequence Analysis, DNA
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pubmed:year |
2000
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pubmed:articleTitle |
Biochemical and molecular basis for mitochondrial cardiomyopathy in neonates and children.
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pubmed:affiliation |
The Molecular Cardiology Institute, Highland Park, New Jersey 08904, USA. tmci@worldnet.att.net
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pubmed:publicationType |
Journal Article
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