Journal article
Phenotypic expression of mtDNA heteroplasmy in the skeletal muscle of patients with oculomyopathy: Defect in mitochondrial protein synthesis
Journal of the Neurological Sciences, Vol.117(1-2), pp.83-91
1993
Abstract
The biochemical consequences of mtDNA heteroplasmy, observed in patients with a range of diseases associated with the mitochondrial respiratory enzymes deficiency is of particular interest, as they might provide information with regard to the regulatory interactions which govern the expression of the human mitochondrial genome. Three patients with chronic progressive external ophthalmoplegia (CPEO) were investigated to study the consequences of mtDNA heteroplasmy on mitochondrial protein synthesis. All 3 patients exhibited partially deleted mtDNA species (varying in size from 10.5 to 14 kb) in their skeletal muscle, which co-existed with the normal 16.5 kb mtDNA. The examination of mitochondrial translation products following the incorporation of [35S]methionine by isolated mitochondria, showed grossly abnormal patterns of mitochondrial translation products, suggesting a major disturbance in the regulation of mitochondrial protein synthesis.
Details
- Title
- Phenotypic expression of mtDNA heteroplasmy in the skeletal muscle of patients with oculomyopathy: Defect in mitochondrial protein synthesis
- Authors/Creators
- H. Sudoyo (Author/Creator) - Monash UniversityS. Marzuki (Author/Creator) - Monash UniversityE. Byrne (Author/Creator) - St Vincent's HealthF. Mastaglia (Author/Creator) - Queen Elizabeth II Medical Centre
- Publication Details
- Journal of the Neurological Sciences, Vol.117(1-2), pp.83-91
- Publisher
- Elsevier BV
- Identifiers
- 991005540830207891
- Copyright
- © 1993 Elsevier B.V
- Murdoch Affiliation
- Murdoch University
- Language
- English
- Resource Type
- Journal article
UN Sustainable Development Goals (SDGs)
This output has contributed to the advancement of the following goals:
Source: InCites
Metrics
22 Record Views
InCites Highlights
These are selected metrics from InCites Benchmarking & Analytics tool, related to this output
- Collaboration types
- Domestic collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.197 Molecular & Cell Biology - Mitochondria
- 1.197.564 Mitochondrial Function
- Web Of Science research areas
- Clinical Neurology
- Neurosciences
- ESI research areas
- Neuroscience & Behavior