Matrin 3 variants are frequent in Italian ALS patients

Giuseppe Marangi, Paolo Niccolo' Doronzio, Marcella Zollino, Mario Sabatelli, Serena Lattante, Amelia Conte, Giorgio Tasca, Mauro Monforte, Agata Katia Patanella, Giulia Bisogni, Emiliana Meleo, Salvatore La Spada

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

21 Citazioni (Scopus)

Abstract

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by loss of motor neurons in the primary motor cortex, brainstem, and spinal cord. Recently, missense variants in MATR3 were identified in familial and sporadic ALS patients, but very few additional ALS patients have been reported so far. The p.S85C MATR3 variant was previously associated to a different phenotype, namely a distal myopathy associated with dysphagia and dysphonia. Here, we assessed the contribution of MATR3 variants in a cohort of 322 Italian ALS patients. We identified 5 different missense MATR3 variants (p.Q66K, p.G153C, p.E664A, p.S707L, and p.N787S) in 6 patients (1.9%). None of our patients showed signs of myopathy at electrophysiological examination. Muscle biopsy, performed in 2 patients, showed neurogenic changes and normal nuclear staining with anti-matrin 3 antibody. Our results confirm that MATR3 variants are associated with ALS and suggest that they are more frequent in Italian ALS patients. Further studies are needed to elucidate the pathogenic significance of identified variants in sporadic and familial ALS.
Lingua originaleEnglish
pagine (da-a)218.e1-218.e7
Numero di pagine7
RivistaNeurobiology of Aging
Volume49
DOI
Stato di pubblicazionePubblicato - 2017

Keywords

  • Aging
  • Amyotrophic lateral sclerosis
  • Developmental Biology
  • Distal myopathy
  • Geriatrics and Gerontology
  • Matrin 3
  • Neurology (clinical)
  • Neuroscience (all)
  • Targeted NGS sequencing

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