Mitochondrial myopathies are a group of diverse neuromuscular disorders. Defects in electron transport chain (ETC) subunits have been implicated in pediatric and adult onset cases. Skin fibroblasts from four patients were studied to elucidate the biochemical defects. / Cells from two patients with ETC complex I deficiency, showed reduced oxidation of alanine with normal oxidation of succinate. Analysis of complex I subunits indicated deficient synthesis of the 20 kDa subunit in the severely affected patient. In the milder patient, subunit abnormalities were not detected. / Fibroblasts from a patient with facioscapulohumeral disease (FSHD), showed reduced oxidation of alanine and succinate through the ETC. / A fourth patient, with decreased activity in several complexes in muscle and liver, was found to have a heteroplasmic mtDNA population in fibroblasts. / These studies exemplify the heterogeneity of mitochondrial myopathies and demonstrate the utility of fibroblasts in the investigation of these disorders.
| Identifer | oai:union.ndltd.org:LACETR/oai:collectionscanada.gc.ca:QMM.60101 |
| Date | January 1990 |
| Creators | Slipetz, Deborah M. |
| Publisher | McGill University |
| Source Sets | Library and Archives Canada ETDs Repository / Centre d'archives des thèses électroniques de Bibliothèque et Archives Canada |
| Language | English |
| Detected Language | English |
| Type | Electronic Thesis or Dissertation |
| Format | application/pdf |
| Coverage | Master of Science (Department of Biology.) |
| Rights | All items in eScholarship@McGill are protected by copyright with all rights reserved unless otherwise indicated. |
| Relation | alephsysno: 001239229, proquestno: AAIMM67847, Theses scanned by UMI/ProQuest. |
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