Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1995-6-5
pubmed:abstractText
Despite the demonstration of a clear biochemical defect, the genetic alterations causing childhood forms of cytochrome c oxidase (COX) deficiency remain unknown. The double genetic origin (nuclear and mitochondrial DNA), and the complexity of COX enzyme structure and regulation, indicate the need for genetic investigations of the molecular structure of individual COX subunits. In the present study a new monoclonal antibody, which reacts exclusively with heart-type human COX subunit VIIa (VIIa-H), and other monoclonal antibodies against human COX subunits, were used in the immunohistochemical analysis of skeletal muscle from children with different forms of mitochondrial myopathy with COX deficiency. By immunohistochemical investigation a normal reaction was seen with antibodies to COX subunits IV, Va+Vb, and VIa+VIc in all four cases, and in two cases with antibodies to COX VIIa-H and VIIa+VIIb. In muscle from a fatal infantile case with cardiac and skeletal muscle involvement, no immunohistochemical reaction was seen with the monoclonal antibody against the tissue-specific subunit VIIa-H. In muscle from an 11-year-old boy with exclusive muscular symptoms and signs, immunohistological reactions were absent with COX subunit VIIa-H and COX subunits VIIa+VIIb, and slightly decreased with COX subunit II, thus demonstrating a different molecular mechanism in each case. It is concluded that the molecular basis of COX deficiency in childhood may vary greatly between patients.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0948-6143
pubmed:author
pubmed:issnType
Print
pubmed:volume
103
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
59-68
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:7736281-Animals, pubmed-meshheading:7736281-Antibodies, Monoclonal, pubmed-meshheading:7736281-Antibody Specificity, pubmed-meshheading:7736281-Blotting, Western, pubmed-meshheading:7736281-Cattle, pubmed-meshheading:7736281-Child, pubmed-meshheading:7736281-Cytochrome-c Oxidase Deficiency, pubmed-meshheading:7736281-Enzyme-Linked Immunosorbent Assay, pubmed-meshheading:7736281-Female, pubmed-meshheading:7736281-Humans, pubmed-meshheading:7736281-Immunohistochemistry, pubmed-meshheading:7736281-Infant, pubmed-meshheading:7736281-Infant, Newborn, pubmed-meshheading:7736281-Liver, pubmed-meshheading:7736281-Male, pubmed-meshheading:7736281-Mitochondria, Heart, pubmed-meshheading:7736281-Muscle, Skeletal, pubmed-meshheading:7736281-Muscular Diseases, pubmed-meshheading:7736281-Rats
pubmed:year
1995
pubmed:articleTitle
Immunohistochemical analysis of muscle cytochrome c oxidase deficiency in children.
pubmed:affiliation
Fachbereich Chemie, Philipps-Universität, Marburg, Germany.
pubmed:publicationType
Journal Article, Clinical Trial, Research Support, Non-U.S. Gov't