Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data

Ahmad Al Khleifat, Alfredo Iacoangeli, Ashley Jones, Joke van Vugt, Aleksey Shatunov, Matthieu Moisse, Aleksey Shatunov, Ramona A.J. Zwamborn, Rick van der Spek, Johnathan Cooper-Knock, Simon Topp, Wouter van Rheenen, Brendan J Kenna, Kristel R. van Eijk, Kevin P Kenna, Ross P. Byrne, Victoria López Alonso, Sarah Opie-Martin, Atay Vural, Yolanda GonzálezMarkus Weber, Bradley Smith, Isabella Fogh, Vincenzo Silani, Karen E. Morrison, Richard Dobson, Michael A. van Es, Russell L. McLaughlin, Adriano Chio, Philippe Corcia, Mamede de Carvalho, Marc Gotkine, Monica P. Panades, Jesus S Mora, Pamela J. Shaw, John E. Landers, Jonathan D. Glass, Christopher Shaw, A. Nazli Başak, Orla Hardiman, Wim Robberecht, Philip Van Damme, Leonard van den Berg, Jan Veldink, Ammar Al-Chalabi

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Amyotrophic lateral sclerosis (ALS), a neurodegenerative disease of motor neurons, is a complex genetic disease with heritability
of 60%. Only about 14% of apparently sporadic ALS is explained by known genetic variation, suggesting that other forms of genetic variation are important, in addition to the known risk factors, male sex and increasing age. Telomeres maintain DNA integrity during cellular replication, differ between sexes, and shorten naturally with age. We find that longer telomeres are associated with ALS and specific phenotypic patterns of disease expression. We see the same pattern of telomere elongation in ALS in brain tissue. The association of longer telomeres with apparently sporadic ALS was also seen in people with familial ALS, supporting the notion that sporadic and familial ALS are not mutually exclusive categories but rather a spectrum.
Original languageEnglish
JournalFrontiers in cellular neuroscience
Publication statusPublished - 15 Nov 2022


  • Amyotrophic Lateral Sclerosis (ALS)
  • Telomere
  • genetics
  • Whole genome sequence (WGS
  • Genomics
  • Big Data
  • bioinforamtics


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