Immunocytological and histochemical correlation in Kearns-Sayre syndrome with mtDNA deletion and partial cytochrome c oxidase deficiency in skeletal muscle.
We report histochemical, immunocytochemical, biochemical and molecular studies of skeletal muscle from a 23-year-old man with Kearns-Sayre syndrome. Southern blot analysis revealed a 4.7 kb heteroplasmic deletion of the mitochondrial DNA mapping within genes coding for subunits of complexes I, IV and V of the respiratory chain and for tRNA. Cytochrome c oxidase activity was decreased by 30% in isolated muscle mitochondria, without alteration of the Km. Histochemical and immunocytochemical correlation studies for cytochrome c oxidase revealed a lack of activity in 34% of individual muscle fibers including all the typical ragged-red fibers and a low percentage of immunodeficient fibers.
Romero
N B
NB
Développement, Pathologie, Régénération du Système Neuromusculaire, INSERM U, Paris, France.
Lestienne
P
P
Marsac
C
C
Paturneau-Jouas
M
M
Nelson
I
I
François
D
D
Eymard
B
B
Fardeau
M
M
D000328:Adult; D030401:Cytochrome-c Oxidase Deficiency; D004272:DNA, Mitochondrial / Q000378:metabolism*; D006801:Humans; D007150:Immunohistochemistry; D007625:Kearns-Sayre Syndrome / Q000378:metabolism* / Q000473:pathology; D008297:Male; D009132:Muscles / Q000378:metabolism* / Q000473:pathology; D009886:Ophthalmoplegia / Q000378:metabolism*
D004272:DNA, Mitochondrial