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[A clinical, histochemical and ultrastructural study of mitochondrial myopathy]
1Department of Neurology, First Teaching Hospital, Bethune University of Medical sciences, Changchun.
Abstract:
Among 189 consecutive cases with neuromyopathies, abnormalities of mitochondria in the muscles were seen in 5 cases. Ragged rad fibers (Rrf) were found with muscle biopsy with the use of staining of Gomory Trichrome. The ultrastructural abnormalities as revealed under the electron microscope in the mitochondria were as follows: 1. the mitochondria contained a lot of paracrystalline inclusion; 2. they were composed of lamellae; and 3., the mitochondria also showed dense spherical inclusions with abundant glycogen-rich sarcoplasm. The clinical manifestations of these patients consisted of: 1. muscular atrophy of various degrees. 2. muscular weakness of the proximal parts of the limbs, and 3. ptosis and ophthalmoplegia (in three cases). Three of the patients were treated with coenzyme Q10 with improvement of some of the symptoms and signs.
Insights
Mitochondrial abnormalities, including ragged red fibers, were found in five patients with neuromyopathies. Treatment with coenzyme Q10 showed some symptom improvement in these muscle disease cases.
Area of Science:
- Neurology
- Mitochondrial Diseases
- Muscle Biology
Background:
- Neuromyopathies encompass a range of neuromuscular disorders.
- Mitochondrial dysfunction is a known contributor to various myopathies.
- Identifying specific ultrastructural changes aids in diagnosis and understanding disease mechanisms.
Observation:
- Muscle biopsies from 5 out of 189 neuromyopathy cases revealed mitochondrial abnormalities.
- Ragged red fibers (RRF) were identified using Gomori Trichrome staining.
- Electron microscopy showed paracrystalline inclusions, lamellar structures, and dense glycogen-rich inclusions within mitochondria.
Findings:
- The observed mitochondrial ultrastructure suggests specific patterns of dysfunction.
- Clinical symptoms included muscular atrophy, proximal limb weakness, ptosis, and ophthalmoplegia.
- A subset of patients experienced symptom improvement with coenzyme Q10 treatment.
Implications:
- These findings highlight the importance of mitochondrial examination in neuromyopathy diagnosis.
- Understanding these specific ultrastructural changes may lead to targeted therapies.
- Coenzyme Q10 shows potential as a therapeutic agent for certain mitochondrial myopathies.