Biomaterial Database

Tissue specificity in cytochrome c oxidase deficient myopathy. 1989

I Nonaka, and Y Koga, and E Ohtaki, and M Yamamoto

Division of Ultrastructural Research, National Institute of Neuroscience, Tokyo, Japan.

Biopsied muscles were treated in 2 ways to demonstrate cytochrome c oxidase (CCO) activity on electron microscopy: (1) one to several muscle fibers were teased off the biopsy in buffer solution after glutaraldehyde fixation, (2) 20-30-microns thick cryostat sections were placed on precooled glass slides and fixed in glutaraldehyde solution at room temperature. After rinsing in buffer, the teased fibers and cryostat sections were stained with cytochrome c oxidase. In both procedures, almost all mitochondria in control muscle fibers stained positively. In CCO deficiency, the enzyme activity differed from tissue to tissue indicating marked tissue specificity. In the fatal infantile form enzyme activity in muscle fibers was absent, but present in fibroblasts, endothelial cells and smooth muscle arterial cells. The enzyme activity in other forms differed from cell to cell, but individual mitochondria in a given cell examined in cross-section showed uniform CCO activity, indicating that there was no intracellular mosaicism of enzyme positive and negative mitochondria.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008297	Male		Males
D009135	Muscular Diseases	Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.	Muscle Disorders,Myopathies,Myopathic Conditions,Muscle Disorder,Muscular Disease,Myopathic Condition,Myopathy
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D005260	Female		Females
D006651	Histocytochemistry	Study of intracellular distribution of chemicals, reaction sites, enzymes, etc., by means of staining reactions, radioactive isotope uptake, selective metal distribution in electron microscopy, or other methods.	Cytochemistry
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293	Adolescent	A person 13 to 18 years of age.	Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D030401	Cytochrome-c Oxidase Deficiency	A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. ELECTRON TRANSPORT COMPLEX IV deficiency caused by mutation in SURF1 manifests itself as LEIGH DISEASE; that caused by mutation in SCO2 as fatal infantile cardioencephalomyopathy; that caused by mutation in COX10 as tubulopathy and leukodystrophy; and that caused by mutation in SCO1 as early-onset hepatic failure and neurologic disorder. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#220110, May 17, 2001)	Complex IV Deficiency,Cox Deficiency,Cytochrome C Oxidase Deficiency,Cytochrome Oxidase Deficiency,Deficiency, Cytochrome-c Oxidase,Mitochondrial Complex IV Deficiency,Complex IV Deficiencies,Cox Deficiencies,Cytochrome Oxidase Deficiencies,Cytochrome-c Oxidase Deficiencies,Deficiencies, Complex IV,Deficiencies, Cox,Deficiencies, Cytochrome Oxidase,Deficiencies, Cytochrome-c Oxidase,Deficiency, Complex IV,Deficiency, Cox,Deficiency, Cytochrome Oxidase,Deficiency, Cytochrome c Oxidase,Oxidase Deficiencies, Cytochrome,Oxidase Deficiencies, Cytochrome-c,Oxidase Deficiency, Cytochrome,Oxidase Deficiency, Cytochrome-c