title: Mitochondrial enzyme deficiencies in Down's syndrome.
abstract: Defects in cytochrome oxidase (CO; complex 4) have recently been demonstrated in blood platelets and in brain tissue from patients with Alzheimer's disease (AD) with possible etiological implications. Because of pathogenetic similarities with AD, we have measured the activities of several mitochondrially localised enzymes in the blood platelets of individuals afflicted with trisomy-21 (Down's syndrome). The activities of monoamine oxidase, cytochrome oxidase, isocitrate dehydrogenase, and glutamate dehydrogenase were assayed in washed platelets from sixty caucasian, male and female control individuals (ages 18-60) and ten, young Down's Syndrome patients (ages 9-21). Significant reductions in the activities of monoamine oxidase, cytochrome oxidase, and isocitrate dehydrogenase were found. In all cases the average activities in Down's syndrome individuals were approximately two-thirds those of controls (DS/Controls = 0.68, 0.67, 0.64 respectively). The activity of the fourth enzyme studied, glutamate dehydrogenase, was found to be similar to controls. Results suggest that these reductions are a consequence of a generalised mitochondrial disturbance which may lie behind some pathogenetic aspect(s) of the disease.
authors.affiliation: Department of Medical Pharmacology, University of Uppsala, Sweden.
authors.forename: J
authors.initials: J
authors.lastname: Prince
authors.forename: S
authors.initials: S
authors.lastname: Jia
authors.forename: U
authors.initials: U
authors.lastname: Båve
authors.forename: G
authors.initials: G
authors.lastname: Annerén
authors.forename: L
authors.initials: L
authors.lastname: Oreland
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D030401:Cytochrome-c Oxidase Deficiency; D004314:Down Syndrome / Q000201:enzymology*; D005260:Female; D005969:Glutamate Dehydrogenase; D006801:Humans; D007521:Isocitrate Dehydrogenase / Q000172:deficiency; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000201:enzymology*; D008995:Monoamine Oxidase / Q000172:deficiency
chemical_list: D007521:Isocitrate Dehydrogenase; D005969:Glutamate Dehydrogenase; D008995:Monoamine Oxidase