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

Publikation

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

Wissenschaftlicher Artikel/Review - 15.12.2022

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

Zitation

Al Khleifat A, Iacoangeli A, Jones A, Van Vugt J, Moisse M, Shatunov A, Zwamborn R, van der Spek R, Cooper-Knock J, Topp S, van Rheenen W, Kenna B, van Eijk K, Kenna K, Byrne R, López V, Opie-Martin S, Vural A, Campos Y, Weber M, Smith B, Fogh I, Silani V, Morrison K, Dobson R, van Es M, McLaughlin R, Vourc'h P, Chio A, Corcia P, de Carvalho M, Gotkine M, Panades M, Mora J, Shaw P, Landers J, Glass J, Shaw C, Başak N, Hardiman O, Robberecht W, Van Damme P, van den Berg L, Veldink J, Al-Chalabi A. Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data. Front Cell Neurosci 2022; 16:1050596.

Art

Wissenschaftlicher Artikel/Review (Englisch)

Zeitschrift

Front Cell Neurosci 2022; 16

Veröffentlichungsdatum

15.12.2022

ISSN (Druck)

1662-5102

Seiten

1050596

Kurzbeschreibung/Zielsetzung

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the loss of upper and lower motor neurons, leading to progressive weakness of voluntary muscles, with death following from neuromuscular respiratory failure, typically within 3 to 5 years. There is a strong genetic contribution to ALS risk. In 10% or more, a family history of ALS or frontotemporal dementia is obtained, and the Mendelian genes responsible for ALS in such families have now been identified in about 50% of cases. Only about 14% of apparently sporadic ALS is explained by known genetic variation, suggesting that other forms of genetic variation are important. Telomeres maintain DNA integrity during cellular replication, differ between sexes, and shorten naturally with age. Sex and age are risk factors for ALS and we therefore investigated telomere length in ALS.