Immunohistochemical analysis of muscle cytochromec oxidase deficiency in children View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1995-01

AUTHORS

Stefanie Possekel, Anne Lombes, Helene Ogier de Baulny, Marie-Arnelle Cheval, Michel Fardeau, Bernhard Kadenbach, Norma B. Romero

ABSTRACT

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. More... »

PAGES

59-68

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf01464476

DOI

http://dx.doi.org/10.1007/bf01464476

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1024889825

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/7736281


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