CASE REPORT
Pathology of mitochondria in MELAS syndrome: an ultrastructural study
Submission date: 2016-11-18
Final revision date: 2016-12-28
Acceptance date: 2016-12-28
Publication date: 2017-09-01
Pol J Pathol 2017;68(2):173-181
KEYWORDS
TOPICS
ABSTRACT
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.
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