Mitochondrial creatine kinase containing crystals, creatine content and mitochondrial creatine kinase activity in chronic progressive external ophthalmoplegia
| Autor: | Ad M. Stadhouders, J. A. M. Smeitink, Wim Ruitenbeek, H.J. ter Laak, Ron A. Wevers, Frans J.M. Trijbels, R. C. A. Sengers |
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| Rok vydání: | 1992 |
| Předmět: |
Adult
Male Adolescent Muscle Proteins Mitochondrion Creatine chemistry.chemical_compound medicine Humans Child Microscopy Immunoelectron Creatine Kinase Genetics (clinical) Ophthalmoplegia biology Total creatine Muscles medicine.disease Molecular biology In vitro Mitochondria Muscle Neurology Biochemistry chemistry Mitochondrial Creatine Kinase Pediatrics Perinatology and Child Health Chronic Disease biology.protein Phosphorylation Creatine kinase Female Neurology (clinical) Chronic progressive external ophthalmoplegia Crystallization Oxidation-Reduction |
| Zdroj: | Neuromuscular disorders : NMD. 2(1) |
| ISSN: | 0960-8966 |
| Popis: | Mitochondrial crystals containing mitochondrial creatine kinase (Mi-CK) protein were described recently. From in vitro studies it has been suggested that alterations in creatine concentration are connected to the occurrence of these crystals. In the present study free, phosphorylated and total creatine concentrations as well as Mi-CK activity were determined in muscle samples of six patients with chronic progressive external ophthalmoplegia (CPEO). Two of them showed Mi-CK containing mitochondrial crystals. The activity of Mi-CK was found to be clearly enhanced in those muscle samples in which mitochondrial crystals were present. No relationship was found between the concentration of total, free or phosphorylated creatine and the occurrence of mitochondrial crystals. An up to now unknown mechanism seems to cause the formation of Mi-CK containing crystals in human muscle mitochondria. |
| Databáze: | OpenAIRE |
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