FUS MUTATIONS IN SPORADIC AMYOTROPHIC LATERAL SCLEROSIS: CLINICAL AND GENETIC ANALYSIS

Vincenzo La Bella, Rossella Spataro, Rosalucia Mazzei, Luigi Citrigno, William Sproviero, Rosalucia Mazzei, Paola Valentino, Carmelo Rodolico, Maria Rosaria Monsurrò, Alessandra Patitucci, Angela Magariello, Paola Valentino, Francesca Luisa Conforti, Isabella Laura Simone, Maria Muglia, Giancarlo Logroscino, Francesco Bono, Aldo Quattrone, Gioacchino Tedeschi, Antonio GambardellaCarmine Ungaro, Francesca Condino

Risultato della ricerca: Articlepeer review

26 Citazioni (Scopus)

Abstract

Fused in sarcoma (FUS) or translocation in liposarcoma (TLS), a DNA/RNA-binding protein, causes a dominant autosomal inherited formof amyotrophic lateral sclerosis (ALS), ALS 6. Its main role in neurodegeneration is highlighted by the presence of cytoplasmicaccumulation of its mutant protein form in ALS patients. To further define the frequency and spectrum of FUS gene mutations, we haveperformed a molecular screening of a cohort of 327 Italian patients from Southern Italy with sporadic ALS (SALS). We identified 4 patientscarrying 3 different missense mutations and several polymorphisms. Two different substitutions occurring in the same amino acidic positionhave been observed in 2 patients: R521G and R521C respectively; P525L mutation has been found in 2 additional cases. Most of the patientswith FUS mutations showed early symptom onset and had short disease survival. We also detected 4 different polymorphic variants(3=-untranslated region [UTR] variant, c.*41G.A; c.52313ins[GAGGTG]; c.335-15del[TTTT]; and rs13331793) in 9 patients from withinour cohort. This study underlines the importance of population-based mutation screening of newly identified genes.© 2011 Elsevier Inc. All rights reserved.
Lingua originaleEnglish
pagine (da-a)837e1-e5
Numero di pagine5
RivistaNeurobiology of Aging
Volume33
Stato di pubblicazionePublished - 2012

All Science Journal Classification (ASJC) codes

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  • ???subjectarea.asjc.1300.1302???
  • ???subjectarea.asjc.2700.2728???
  • ???subjectarea.asjc.1300.1309???
  • ???subjectarea.asjc.2700.2717???

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