Your browser doesn't support javascript.
loading
NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.
Mavillard, Fabiola; Madruga-Garrido, Marcos; Rivas, Eloy; Servián-Morilla, Emilia; Ávila-Polo, Rainiero; Marcos, Irene; Morón, Francisco J; Paradas, Carmen; Cabrera-Serrano, Macarena.
Afiliação
  • Mavillard F; Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/CSIC, Universidad de Sevilla, Sevilla, Spain.
  • Madruga-Garrido M; Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Instituto de salud Carlos III, Sevilla, Spain.
  • Rivas E; Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/CSIC, Universidad de Sevilla, Sevilla, Spain.
  • Servián-Morilla E; Neuromuscular Disorder Unit, Pediatric Neurology Department, Hospital U. Virgen del Rocío, Sevilla, Spain.
  • Ávila-Polo R; Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/CSIC, Universidad de Sevilla, Sevilla, Spain.
  • Marcos I; Department of Pathology, Hospital U. Virgen del Rocío, Sevilla, Spain.
  • Morón FJ; Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/CSIC, Universidad de Sevilla, Sevilla, Spain.
  • Paradas C; Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Instituto de salud Carlos III, Sevilla, Spain.
  • Cabrera-Serrano M; Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/CSIC, Universidad de Sevilla, Sevilla, Spain.
Ann Clin Transl Neurol ; 6(11): 2328-2333, 2019 11.
Article em En | MEDLINE | ID: mdl-31612648
CAPN3 mutations cause a limb girdle muscular dystrophy. Functional characterization of novel mutations facilitates diagnosis of future cases. We have identified a novel (c.1992 + 2T>G) CAPN3 mutation that disrupts the donor splice site of intron 17 splicing out exon 17, with mRNA levels severely reduced or undetectable. The mutation induces a strong change in the 3D structure of the mRNA which supports no-go mRNA decay as the probable mechanism for RNA degradation. The mutation was identified in two unrelated Roma individuals showing a common ancestral origin and founder effect. This is the first Roma CAPN3 mutation to be reported.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Calpaína / Distrofia Muscular do Cíngulo dos Membros / Proteínas Musculares Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Calpaína / Distrofia Muscular do Cíngulo dos Membros / Proteínas Musculares Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article