ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis

Giuseppe Marangi, Marcella Zollino, Mario Sabatelli, Serena Lattante, Maria Grazia Pomponi, Amelia Conte, Giulia Bisogni, Agata Katia Patanella, Emiliana Meleo, Christian Lunetta, Nilo Riva, Lorena Mosca, Paola Carrera, Marco Bee

Risultato della ricerca: Contributo in rivistaArticolo in rivista

17 Citazioni (Scopus)

Abstract

To clarify the possible involvement of intermediate ATXN1 alleles as risk factors for amyotrophic lateral sclerosis (ALS), we tested ATXN1 in a cohort of 1146 Italian ALS patients, previously screened for variants in other ALS genes, and in 529 controls. We detected ATXN1 alleles with ≥33 polyglutamine repeats in 105 of 1146 patients (9.16%) and 29 of 529 controls (5.48%) (p = 0.003). The frequency of ATXN1 alleles with ≥33 polyglutamine repeats was particularly high in the group of ALS patients carrying the C9orf72 expansion (12/59, 20.3%). We confirmed this result in an independent cohort of C9orf72 Italian patients (10/80 cases, 12.5%), thus finding a cumulative frequency of ATXN1 expansion of 15.82% in C9orf72 carriers (p = 2.40E-05). Our results strongly support the hypothesis that ATXN1 could act as a disease risk gene in ALS, mostly in C9orf72 expansion carriers. Further studies are needed to confirm our results and to define the mechanism by which ATXN1 might contribute to neuronal degeneration leading to ALS.
Lingua originaleEnglish
pagine (da-a)N/A-N/A
RivistaNeurobiology of Aging
DOI
Stato di pubblicazionePubblicato - 2018

Keywords

  • ATXN1
  • Amyotrophic lateral sclerosis

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