Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy

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art_ROSS_Impairments_in_contractility_and_cytoskeletal_organisation_cause_nuclear_2019.PDF (9.96 MB)
Citações na Scopus
24
Tipo de produção
article
Data de publicação
2019
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
SPRINGER
Autores
ROSS, Jacob A.
LEVY, Yotam
RIPOLONE, Michela
KOLB, Justin S.
TURMAINE, Mark
HOLT, Mark
LINDQVIST, Johan
CLAEYS, Kristl G.
WEIS, Joachim
MONFORTE, Mauro
Citação
ACTA NEUROPATHOLOGICA, v.138, n.3, Special Issue, p.477-495, 2019
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
Nemaline myopathy (NM) is a skeletal muscle disorder caused by mutations in genes that are generally involved in muscle contraction, in particular those related to the structure and/or regulation of the thin filament. Many pathogenic aspects of this disease remain largely unclear. Here, we report novel pathological defects in skeletal muscle fibres of mouse models and patients with NM: irregular spacing and morphology of nuclei; disrupted nuclear envelope; altered chromatin arrangement; and disorganisation of the cortical cytoskeleton. Impairments in contractility are the primary cause of these nuclear defects. We also establish the role of microtubule organisation in determining nuclear morphology, a phenomenon which is likely to contribute to nuclear alterations in this disease. Our results overlap with findings in diseases caused directly by mutations in nuclear envelope or cytoskeletal proteins. Given the important role of nuclear shape and envelope in regulating gene expression, and the cytoskeleton in maintaining muscle fibre integrity, our findings are likely to explain some of the hallmarks of NM, including contractile filament disarray, altered mechanical properties and broad transcriptional alterations.
Palavras-chave
Skeletal muscle, Nemaline myopathy, Microtubules, Actin, Lamin, Nuclear envelope
URI
https://observatorio.fm.usp.br/handle/OPI/33512
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Coleções
Artigos e Materiais de Revistas Científicas - FM/MNE
Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - LIM/15