Matrin 3 variants are frequent in Italian ALS patients

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

Research output: Contribution to journalArticle

13 Citations (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.

Original languageEnglish
Pages (from-to)218
Number of pages1
JournalNeurobiology of Aging
Volume49
Early online dateOct 6 2016
DOIs
Publication statusPublished - Jan 1 2017

Fingerprint

Amyotrophic Lateral Sclerosis
Distal Myopathies
Dysphonia
Motor Cortex
Motor Neurons
Muscular Diseases
Deglutition Disorders
Neurodegenerative Diseases
Brain Stem
Spinal Cord
Staining and Labeling
Phenotype
Biopsy
Muscles
Amyotrophic lateral sclerosis 1
Antibodies

Keywords

  • Amyotrophic lateral sclerosis
  • Distal myopathy
  • Matrin 3
  • Targeted NGS sequencing

ASJC Scopus subject areas

  • Neuroscience(all)
  • Ageing
  • Developmental Biology
  • Geriatrics and Gerontology
  • Clinical Neurology

Cite this

Marangi, G., Lattante, S., Doronzio, P. N., Conte, A., Tasca, G., Monforte, M., ... Sabatelli, M. (2017). Matrin 3 variants are frequent in Italian ALS patients. Neurobiology of Aging, 49, 218. https://doi.org/10.1016/j.neurobiolaging.2016.09.023

Matrin 3 variants are frequent in Italian ALS patients. / Marangi, Giuseppe; Lattante, Serena; Doronzio, Paolo Niccolò; Conte, Amelia; Tasca, Giorgio; Monforte, Mauro; Patanella, Agata Katia; Bisogni, Giulia; Meleo, Emiliana; La Spada, Salvatore; Zollino, Marcella; Sabatelli, Mario.

In: Neurobiology of Aging, Vol. 49, 01.01.2017, p. 218.

Research output: Contribution to journalArticle

Marangi, G, Lattante, S, Doronzio, PN, Conte, A, Tasca, G, Monforte, M, Patanella, AK, Bisogni, G, Meleo, E, La Spada, S, Zollino, M & Sabatelli, M 2017, 'Matrin 3 variants are frequent in Italian ALS patients', Neurobiology of Aging, vol. 49, pp. 218. https://doi.org/10.1016/j.neurobiolaging.2016.09.023
Marangi, Giuseppe ; Lattante, Serena ; Doronzio, Paolo Niccolò ; Conte, Amelia ; Tasca, Giorgio ; Monforte, Mauro ; Patanella, Agata Katia ; Bisogni, Giulia ; Meleo, Emiliana ; La Spada, Salvatore ; Zollino, Marcella ; Sabatelli, Mario. / Matrin 3 variants are frequent in Italian ALS patients. In: Neurobiology of Aging. 2017 ; Vol. 49. pp. 218.
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