eISSN: 2084-9869
ISSN: 1233-9687
Polish Journal of Pathology
Current issue Archive Manuscripts accepted About the journal Supplements Abstracting and indexing Subscription Contact Instructions for authors
SCImago Journal & Country Rank
vol. 69
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
Online publish date: 2019/01/31
View full text
Get citation
JabRef, Mendeley
Papers, Reference Manager, RefWorks, Zotero
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.

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

Koopman WJH, Beyrath J, Fung CW, et al. Mitochondrial disorders in children: toward development of small-molecule treatment strategies. EMBO Mol Med 2016; 8: 311-327.
Wallace DC. Mitochondrial diseases in man and mouse. Science 1999; 283: 1482-1488.
Gupta S. Molecular steps of death receptor and mitochondrial pathways of apoptosis. Life Sci 2001; 69: 2957-2964.
DiMauro S. Schon EA. Mitochondrial respiratory-chain diseases. N Engl J Med 2003; 348: 2656-2668.
Houshmand M. Role of mitochondria in epilepsy. In: Novel Treatment of Epilepsy. Foyaca-Sibat H. (ed) First Edition. Intech Open 2011; 37-58.
Anderson S, Bankier AT, Barrell BG, et al. Sequence and organization of the human mitochondrial genome. Nature 1981; 290: 457-465.
Filosto M, Tomelleri G, Tonin P, et al. Neuropathology of mitochondrial diseases. Biosci Rep 2007; 27: 23-30.
Kang H-C, Lee Y-M, Kim HD. Mitochondrial disease and epilepsy. Brain Dev 2013; 35: 757-761.
Schapira AH. Mitochondrial disease. Lancet 2006; 368: 70-82.
Chinnery PF. Mitochondrial disorders overview. In: Gene Reviews. Adam MP, Ardinger HH (eds) Seattle (WA) University of Washington, Seattle 2014; 1993-2018.
Zeviani M, Di Donato S. Mitochondrial disorders. Brain 2004; 127: 2153-2172.
Longo N. Mitochondrial encephalopathy.Neurol Clin 2003; 21: 817-831.
Finsterer J. Mitochondriopathies. Eur J Neurol 2004; 11:
Finsterer J, Zarrouk-Mahjoub S. Mitochondrial vasculopathy. World J Cardiol 2016; 8: 333-339.
Riggs JE, Schochet SS, Fakadej AV, et al. Mitochondrial encephalomyopathy with decreased succinate-cytochrome c reductase activity. Neurology 1984; 34: 48-53.
Leonard JV, Schapira AH. Mitochondrial respiratory chain disorders I: mitochondrial DNA defects. Lancet 2000; 355: 26-99-304.
Fukuhara N, Tokiguchi S, Shirakawa K, et al. Myoclonus epilepsy associated with ragged-red fibers (mitochondrial abnormalities): disease entity or a syndrome. J Neurol Sci 1980; 4791: 117-133.
Tsairis P, Engel WK, Kark P. Familial myoclonic epilepsy syndrome associated with skeletal muscle mitochondrial abnormalities. Neurology 1973; 23:408.
Sirtoli R. Myoclonic epilepsy with ragged-red fibers (MERRF). The Winnower 2015; 24: 1-12.
Chan DC. Mitochondria: dynamic organelles in disease, aging, and development. Cell 2006; 125: 1241-1252.
Lorenzoni PJ, Scola RH, Kay CS, et al. When should MERRF
(myoclonus epilepsy associated with raggerd-red fibers) be the diagnosis? Arq Neuropsiquiatr 2014; 72: 803-811.
Rahman S. Mitochondrial disease and epilepsy. Dev Med Child Neurol 2012; 54: 397-406.
Dias-Tosta E. Chronic progressive external ophthalmoplegia II.
A qualitative and quantitative electronmicroscopy study of skeletal muscles. Arq Neuro-Psiquiat 1988; 46: 143-155.
Schwartzkopff B, Frenzel H, Breithardt G, et al. Ultrastructural findings in endomyocardial biopsy of patients with Kearns-Sayre Syndrome. J Am Coil CardioI 1988;12: 1522-1528.
Stadhouders AM, Sengers RCA. Morphological observations in skeletal muscle from patients with a mitochondrial myopathy. J Inher Metab Dis 1987; 10: 62-80.
Farrants GW, Hovmoller S, Stadhouders ADM. Two types of mitochondrial crystals in diseased human skeletal muscle fibers. Muscle and Nerve 1988; 11: 45-55.
Barohn RJ, Dimachkie MM, Jackson CE. A pattern recognition approach to the patient with a suspected myopathy. Neurol Clin 2014; 32: 569-593.
Moghadam-Kia S. Approach to asymptomatic creatine kinase elevation. Cleve Clin J Med 2016; 83: 37-42.
Brewster LM, Coronel CMD, Sluiter W, et al. Ethnic differences in tissue creatine kinase activity: an observational study. PLoS one 2012; 7: 1-3.
Vincent AE, Ng YS, White K, et al. The spectrum of mitochondrial ultrastructural defects in mitochondrial myopathy. Sci Rep 2016; 6: 1-11.
Mirabella M, Di Giovanni S, Silvestri G, et al. Apoptosis in mitochondrial encephalomyopathies with mitochondrial DNA mutations: a potential pathogenic mechanism. Brain 2000; 123: 93-104.
Liu CC, Ahearn JM. Apoptosis of skeletal muscle cells and the pathogenesis of myositis: a perspective. Curr Rheumatol Rep 2001; 3: 325-333.
Sena CM, Pereira AM, Seica R. Endothelial dysfunction-a major mediator of diabetic vascular disease. Biochim Biophys Acta. 2013; 1832: 2216-2231.
Tang X, Luo Y-X, Chen H-Z, et al. Mitochondria, endothelial cell function, and vascular diseases. Front Physiol 2014; 5: 1-17.
Taglia I, Bonifati V, Mignarri A, et al. Primary familiar brain calcification: update on molecular genetics Neurol Sci 2015; 36: 787-794.
Hofmann Bowman MA, McNally EM. Genetic pathways of vascular calcification. Trends Cardiovasc Med 2012; 22: 93-98.
Cheville NF. Calcification In: Ultrastructural Pathology The Comparative Cellular Basis of Disease. Cheville NF (ed.). 2nd ed. Wiley-Blackwell, Iowa, USA 2009: 797-828.
Quick links
© 2019 Termedia Sp. z o.o. All rights reserved.
Developed by Bentus.
PayU - płatności internetowe