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Loss of Sarcomeric ...
Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies
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Ávila-Polo, R. (author)
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Malfatti, E. (author)
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Lornage, X. (author)
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Cheraud, C. (author)
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Nelson, I. (author)
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Nectoux, J. (author)
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Böhm, J. (author)
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Schneider, R. (author)
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- Oldfors Hedberg, Carola, 1969 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology
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Eymard, B. (author)
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Monges, S. (author)
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Lubieniecki, F. (author)
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Brochier, G. (author)
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Thao Bui, M. (author)
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Madelaine, A. (author)
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Labasse, C. (author)
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Beuvin, M. (author)
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Lacène, E. (author)
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Boland, A. (author)
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Deleuze, J. F. (author)
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Thompson, J. (author)
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Richard, I. (author)
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Taratuto, A. L. (author)
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Udd, B. (author)
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Leturcq, F. (author)
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Bonne, G. (author)
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- Oldfors, Anders, 1951 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology
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Laporte, J. (author)
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Romero, N. B. (author)
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(creator_code:org_t)
- 2018-10-25
- 2018
- English.
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In: Journal of Neuropathology and Experimental Neurology. - : Oxford University Press (OUP). - 1554-6578 .- 0022-3069. ; 77:12, s. 1101-1114
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https://academic.oup...
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
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- Titin-related myopathies are heterogeneous clinical conditions associated with mutations in TTN. To define their histopathologic boundaries and try to overcome the difficulty in assessing the pathogenic role of TTN variants, we performed a thorough morphological skeletal muscle analysis including light and electron microscopy in 23 patients with different clinical phenotypes presenting pathogenic autosomal dominant or autosomal recessive (AR) mutations located in different TTN domains. We identified a consistent pattern characterized by diverse defects in oxidative staining with prominent nuclear internalization in congenital phenotypes (AR-CM) (n=10), ±necrotic/regenerative fibers, associated with endomysial fibrosis and rimmed vacuoles (RVs) in AR early-onset Emery-Dreifuss-like (AR-ED) (n=4) and AR adult-onset distal myopathies (n=4), and cytoplasmic bodies (CBs) as predominant finding in hereditary myopathy with early respiratory failure (HMERF) patients (n=5). Ultrastructurally, the most significant abnormalities, particularly in AR-CM, were multiple narrow core lesions and/or clear small areas of disorganizations affecting one or a few sarcomeres with M-band and sometimes A-band disruption and loss of thick filaments. CBs were noted in some AR-CM and associated with RVs in HMERF and some AR-ED cases. As a whole, we described recognizable histopathological patterns and structural alterations that could point toward considering the pathogenicity of TTN mutations.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Ávila-Polo, R.
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Malfatti, E.
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Lornage, X.
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Cheraud, C.
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Nelson, I.
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Nectoux, J.
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show more...
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Böhm, J.
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Schneider, R.
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Oldfors Hedberg, ...
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Eymard, B.
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Monges, S.
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Lubieniecki, F.
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Brochier, G.
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Thao Bui, M.
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Madelaine, A.
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Labasse, C.
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Beuvin, M.
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Lacène, E.
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Boland, A.
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Deleuze, J. F.
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Thompson, J.
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Richard, I.
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Taratuto, A. L.
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Udd, B.
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Leturcq, F.
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Bonne, G.
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Oldfors, Anders, ...
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Laporte, J.
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Romero, N. B.
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Cell and Molecul ...
- Articles in the publication
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Journal of Neuro ...
- By the university
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University of Gothenburg