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Polish Journal of Pathology
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vol. 68
Case report

Pathology of mitochondria in MELAS syndrome: an ultrastructural study

Paulina Felczak, Eliza Lewandowska, Iwona Stępniak, Monika Ołdak, Agnieszka Pollak, Urszula Lechowicz, Elżbieta Pasennik, Tomasz Stępień, Teresa Wierzba-Bobrowicz

Pol J Pathol 2017; 68 (2): 173-181
Online publish date: 2017/09/01
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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.

MELAS, A3243G mutation, abnormal mitochondria, ultrastructure

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