Pathology of skeletal muscle fibers and small blood vessels in MERRF syndrome: an ultrastructural study
| Autor: | Paulina Felczak, Iwona Stępniak, Paweł Kowalski, Tomasz Stępień, Teresa Wierzba-Bobrowicz |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: | |
| Zdroj: | Polish Journal of Pathology, Vol 69, Iss 4, Pp 422-431 (2019) |
| Druh dokumentu: | article |
| ISSN: | 1233-9687 2084-9869 |
| DOI: | 10.5114/pjp.2018.80904 |
| Popis: | Our studies concerned skeletal muscle biopsy specimens from a patient with clinically suspected MERRF syndrome, confirmed by genetic tests showing the presence of point mutation in the m.8344A> G in the tRNALys gene. Ultrastructurally, extensive damage of mitochondria in skeletal muscle fibres was observed, including the presence of two types of mitochondrial inclusions. Mild damage of mitochondria was revealed in small blood vessels and the presence of calcium deposits in the vascular walls were observed. The differences in mitochondrial damage may be related to different origin and expenditure of biologically useful energy in these cells. |
| Databáze: | Directory of Open Access Journals |
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