Pathology of mitochondria in MELAS syndrome: an ultrastructural study

Autor: Paulina Felczak, Eliza Lewandowska, Iwona Stępniak, Monika Ołdak, Agnieszka Pollak, Urszula Lechowicz, Elżbieta Pasennik, Tomasz Stępień, Teresa Wierzba-Bobrowicz
Jazyk: angličtina
Rok vydání: 2017
Předmět:
Zdroj: Polish Journal of Pathology, Vol 68, Iss 2, Pp 173-181 (2017)
Druh dokumentu: article
ISSN: 1233-9687
2084-9869
DOI: 10.5114/pjp.2017.65021
Popis: Ultrastructural changes in skeletal muscle biopsy in a 24-year-old female patient with clinically suspected mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) syndrome are presented. We observed proliferation and/or pleomorphism of mitochondria in skeletal muscle and smooth muscle cells of arterioles, as well as in pericytes of capillaries. Paracrystalline inclusions were found only in damaged mitochondria of skeletal muscle. Genetic testing revealed a point mutation in A3243G tRNALeu(UUR) typical for MELAS syndrome. We conclude that differentiated pathological changes of mitochondria in the studied types of cells may be associated with the different energy requirements of these cells.
Databáze: Directory of Open Access Journals