title: Mitochondrial activity in Pompe's disease.
abstract: Mitochondrial oxidative metabolism was examined in two infants with Pompe's disease. The clinical diagnosis was confirmed by the demonstration of intralysosomal glycogen accumulation and a deficiency of acid alpha-D-glucosidase in muscle biopsies. Light and electron microscopy studies demonstrated a normal number of mitochondria with normal ultrastructure. Spectrophotometric measurements revealed that the specific activities of citrate synthase and the partial reactions of electron transport were markedly elevated in the skeletal muscle homogenates prepared from both infants with Pompe's disease when calculated as micromoles per minute per gram wet weight of tissue. However, when respiratory chain enzyme activities were expressed relative to citrate synthase as a marker mitochondrial enzyme, a different pattern emerged, in which all Pompe muscle respiratory enzymes, except complex IV, were decreased relative to control subjects. These observations demonstrate that caution should be exercised when analyzing and interpreting data obtained from tissue homogenates in general and, in particular, in those prepared from tissues in which the wet weight of tissue may be altered, for example, by pathologic accumulation of carbohydrate or lipid.
authors.affiliation: Barnett Center for the Study of Mitochondrial Disorders, Department of Pediatrics, St. Christopher's Hospital for Children, Philadelphia, Pennsylvania, USA.
authors.forename: M A
authors.initials: MA
authors.lastname: Selak
authors.forename: J P
authors.initials: JP
authors.lastname: de Chadarevian
authors.forename: J J
authors.initials: JJ
authors.lastname: Melvin
authors.forename: W D
authors.initials: WD
authors.lastname: Grover
authors.forename: L
authors.initials: L
authors.lastname: Salganicoff
authors.forename: E M
authors.initials: EM
authors.lastname: Kaye
mesh_terms: D001706:Biopsy; D002950:Citrate (si)-Synthase / Q000378:metabolism; D003937:Diagnosis, Differential; D004579:Electron Transport; D005260:Female; D005087:Glucan 1,4-alpha-Glucosidase / Q000172:deficiency*; D006003:Glycogen / Q000378:metabolism; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000201:enzymology / Q000378:metabolism*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008928:Mitochondria / Q000201:enzymology / Q000378:metabolism*; D009132:Muscles / Q000201:enzymology / Q000378:metabolism* / Q000473:pathology*; D010084:Oxidation-Reduction; D000520:alpha-Glucosidases
chemical_list: D006003:Glycogen; D002950:Citrate (si)-Synthase; D000520:alpha-Glucosidases; D005087:Glucan 1,4-alpha-Glucosidase