Pathology of skeletal muscle fibers and small blood vessels in MERRF syndrome: an ultrastructural study
| Autor: | Teresa Wierzba-Bobrowicz, Iwona Stępniak, Paulina Felczak, Tomasz Stępień, Paweł Kowalski |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Pathology
medicine.medical_specialty Muscle Fibers Skeletal chemistry.chemical_element lcsh:Medicine Skeletal Muscle Fibers Calcium Mitochondrion Biology MERRF Pathology and Forensic Medicine medicine Humans Point mutation A8344G mutation lcsh:R MERRF syndrome Skeletal muscle General Medicine medicine.disease ultrastructure MERRF Syndrome Mitochondria Skeletal muscle biopsy medicine.anatomical_structure chemistry abnormal mitochondria Microvessels Mutation Ultrastructure calcium precipitate |
| Zdroj: | Polish Journal of Pathology, Vol 69, Iss 4, Pp 422-431 (2019) |
| ISSN: | 2084-9869 1233-9687 |
| 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: | OpenAIRE |
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