关键词: A3243G mutation abnormal mitochondria ultrastructure MELAS

Mesh : Female Humans MELAS Syndrome / genetics pathology Mitochondria / pathology ultrastructure Muscle, Skeletal / pathology ultrastructure RNA, Transfer, Leu / genetics Young Adult

来  源:   DOI:10.5114/pjp.2017.65021   PDF(Sci-hub)

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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