Mitochondrial myopathies
Abstract
The first description of a patient with mitochondrial myopathy and deficient respiratory chain function was reported by Luft and coworkers almost 40 years ago. Subsequent studies in the 1970s and 1980s relied on a combination of morphological and biochemical methods to identify patients with mitochondrial disorders. However, the aetiology and pathogenesis remained largely unsolved and there was poor correlation between laboratory findings and clinical phenotypes. The fact that both mitochondrial DNA (mtDNA) and nuclear genes are necessary for the biogenesis of the respiratory chain, suggested that mutations of either genome might cause mitochondrial myopathy. This prediction has been verified during the last decade and pathogenic mutations of both genomes have been identified. This rapid accumulation of genetic information has lead to many good correlations between genotype and phenotype in mitochondrial disorders. The challenge for the future will be to elucidate molecular details of pathogenic processes and to develop effective treatments for patients with respiratory chain dysfunction.
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The mitochondrial oxidative phosphorylation system consists of five multi-heteromeric complexes embedded in the inner mitochondrial membrane and composed of subunits encoded by both nuclear and mitochondrial DNA (except complex II, which is only encoded by nuclear DNA).
“The mitochondrial oxidative phosphorylation system consists of five multi-heteromeric complexes embedded in the inner mitochondrial membrane and composed of subunits encoded by both nuclear and mitochondrial DNA (except complex II, which is only encoded by nuclear DNA) (Larsson and Oldfors, 2001; Rotig and Munnich, 2003).”
From Impaired aerobic capacity and premature fatigue preceding muscle weakness in the skeletal muscle <i>Tfam-</i>knockout mouse model (2021) · cites this paper as Larsson and Oldfors, 2001
The catalytic subunits of COX are encoded by mtDNA, whereas SDH is exclusively nucleus-encoded.
“This histochemical pattern of enzyme activities is typical for mitochondrial disease caused by impaired mtDNA expression because the catalytic subunits of COX are encoded by mtDNA, whereas SDH is exclusively nucleus-encoded (23).”
From Increased mitochondrial mass in mitochondrial myopathy mice (2002) · cites this paper as [23]
The tissue-specific knockout animals reproduce important pathophysiological features found in human patients with mitochondrial myopathy, i.e., RRFs with COX deficiency, accumulation of abnormally appearing mitochondria, and progressively deteriorating respiratory chain function in skeletal muscle.
“These tissue-specific knockout animals reproduce important pathophysiological features found in human patients with mitochondrial myopathy, i.e., RRFs with COX deficiency (1), accumulation of abnormally appearing mitochondria (23), and progressively deteriorating respiratory chain function in skeletal muscle (24,25).”
From Increased mitochondrial mass in mitochondrial myopathy mice (2002) · cites this paper as [23]
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- Authors
- Larsson, N. ‐., & Oldfors, A.
- Affiliations
- Karolinska University Hospital (SE)
- Sahlgrenska University Hospital (SE)
- Venue
- Acta Physiologica Scandinavica
- Publisher
- Wiley
- Published
- 2001-03
- Volume
- 171
- Issue
- 3
- Pages
- 385-393
- ISSN
- 0001-6772 (ISSN-L)
- 1365-201X
- OpenAlex
- W3091305991
- Cited by
- 65
- References
- 77
- Citations by year
- 2026: 3 · 2025: 2 · 2024: 2 · 2023: 2 · 2022: 1 · 2021: 3 · 2020: 1 · 2017: 3 · 2016: 1 · 2015: 3 · 2013: 2 · 2012: 2
- FWCI
- 0.22
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Acta Physiologica Scandinavica (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- mitochondrial myopathy, respiratory chain deficiency, mitochondrial DNA mutations, nuclear gene mutations, mitochondrial biogenesis, genotype-phenotype correlation, pathogenesis
- MeSH terms
- DNA, Mitochondrial, Electron Transport, Mitochondria, Mitochondrial Myopathies, Point Mutation, Muscle, Skeletal
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