Linked Life Data

20920610

Source:http://linkedlifedata.com/resource/pubmed/id/20920610

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2010-12-15
pubmed:abstractText
Mutations in the TMEM70 gene are responsible for a familial form of complex V deficiency presenting with 3-methylglutaconic aciduria, lactic acidosis, cardiomyopathy and mitochondrial myopathy. Here we present a case of TMEM70 deficiency due to compound heterozygous mutations, who displayed abnormal mitochondria with whorled cristae in muscle. Immunogold electron microscopy and tomography shows for the first time that nucleoid clusters of mtDNA are disrupted in the abnormal mitochondria, with both nucleoids and mitochondrial respiratory chain complexes confined to the outer rings of the whorls. This could explain the differential effects on the expression and assembly of complex V in different tissues.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
1872-8278
pubmed:author
pubmed:copyrightInfo
Copyright © 2010 Elsevier B.V. and Mitochondria Research Society. All rights reserved.
pubmed:issnType
Electronic
pubmed:volume
11
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
191-9
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.
pubmed:affiliation
Genetics and Genome Biology, The Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.
pubmed:publicationType
Journal Article, Case Reports