eISSN: 2084-9869
ISSN: 1233-9687
Polish Journal of Pathology
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4/2018
vol. 69
 
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abstract:
Case report

Pathology of skeletal muscle fibers and small blood vessels in MERRF syndrome: an ultrastructural study

Paulina Felczak
,
Iwona Stępniak
,
Paweł Kowalski
,
Tomasz Stępień
,
Teresa Wierzba-Bobrowicz

Pol J Pathol 2018; 69 (4): 422-431
DOI: https://doi.org/10.5114/pjp.2018.80904
Online publish date: 2019/01/31
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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.
keywords:

MERRF, A8344G mutation, abnormal mitochondria, ultrastructure, calcium precipitate
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