Familial hypertrophic ventricular cardiomyopathy has been demonstrated to be associated with a number of mitochondrial DNA (mtDNA) mutations. A fibroblast cell line carrying a mutation in its mtDNA at position 9997 in the gene encoding tRNA glycine was obtained from a patient with hypertrophic cardi
Respiratory chain and mitochondrial deoxyribonucleic acid in blood cells from patients with focal and generalized dystonia
โ Scribed by Prof. Dr. med. Heinz Reichmann; Markus Naumann; Sabine Hauck; Bernd Janetzky
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 383 KB
- Volume
- 9
- Category
- Article
- ISSN
- 0885-3185
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โฆ Synopsis
Abstract
An increaseing number of neurodegenerative diseases seem to be associated with or even due to disturbancs of cerebral energy metabolism. One generally accepted example is complex I deficiency in substantia nigra from patients with Parkinson's disease. Reports on a complex I defect in platelets from patients with dystonia led us to check for disturbances of the respiratory chain or of the mitochondrial genome in isolated mitochondria from patients with focal or generalized dystonia. We could not confirm the idea of mitochondrial disturbance in platelets from patients with dystonia because we did not find abnormal enzyme activities or any deletions of the mitochondrial genome. Thus, we do not think that blood cells such as platelets can serve as markers for neurodegenerative disorders such as dystonia.
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