Mitochondrial activity in Pompe's disease

作     者：Selak, MA de Chadarevian, JP Melvin, JJ Grover, WD Salganicoff, L Kaye, EM 

作者机构：St Christophers Hosp Children Barnett Ctr Study Mitochondrial Disorders Dept Pediat Philadelphia PA 19133 USA St Christophers Hosp Children Dept Pathol & Lab Med Philadelphia PA 19133 USA 

出 版 物：《PEDIATRIC NEUROLOGY》 (儿科神经病学)

年 卷 期：2000年第23卷第1期

页      面：54-57页

核心收录：

学科分类：1002[医学-临床医学] 100202[医学-儿科学] 10[医学] 

主　　题：Glucan 1 4-alpha-Glucosidase Glycogen Storage Disease Type II Mitochondria 葡聚糖1 4-α葡糖苷酶 糖原累积病Ⅱ型 线粒体 肌 Cell Respiration Citrate (si)-Synthase Aerobiosis Electron Transport Complex IV Normal number Glycogen Storage Disease Type II 4-nitrophenyl-alpha-glucosidase Mitochondria wet weight 

摘      要：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. (C) 2000 by Elsevier Science Inc. All rights reserved.