Genetic analysis of GLT8D1 and ARPP21 in Australian familial and sporadic amyotrophic lateral sclerosis

Sandrine Chan Moi Fat, Emily P. McCann, Kelly L. Williams, Lyndal Henden, Natalie A. Twine, Denis C. Bauer, Roger Pamphlett, Matthew C. Kiernan, Dominic B. Rowe, Garth A. Nicholson, Jennifer A. Fifita*, Ian P. Blair

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)

Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease caused by the progressive degeneration of motor neurons. Recently, genetic variants in GLT8D1 and ARPP21 were associated with ALS in a cohort of European descent. A synergistic relationship was proposed between ALS associated variants in GLT8D1 and ARPP21. We aimed to determine the prevalence of genetic variation in GLT8D1 and ARPP21 in an Australian cohort of familial (n = 81) and sporadic ALS (n = 618) cases using whole-exome and whole-genome sequencing data. No novel mutations were identified in either gene, nor was there significant enrichment of protein-altering sequence variation among ALS cases. GLT8D1 and ARPP21 mutations are not a common cause of ALS in Australian familial and sporadic cohorts.

Original languageEnglish
Pages (from-to)297.e11-297.e13
Number of pages3
JournalNeurobiology of Aging
Volume101
DOIs
Publication statusPublished - May 2021

Keywords

  • Amyotrophic lateral sclerosis
  • Gene screening
  • GLT8D1 and ARPP21
  • Whole-genome sequencing

Fingerprint

Dive into the research topics of 'Genetic analysis of GLT8D1 and ARPP21 in Australian familial and sporadic amyotrophic lateral sclerosis'. Together they form a unique fingerprint.

Cite this