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Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis
Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands.
Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands.
Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands.
Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands.
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2023 (English)In: Neurobiology of Aging, ISSN 0197-4580, E-ISSN 1558-1497, Vol. 122, p. 76-87Article in journal (Refereed) Published
Abstract [en]

Amyotrophic lateral sclerosis is a heterogeneous, fatal neurodegenerative disease, characterized by motor neuron loss and in 50% of cases also by cognitive and/or behavioral changes. Mendelian forms of ALS comprise approximately 10-15% of cases. The majority is however considered sporadic, but also with a high contribution of genetic risk factors. To explore the contribution of somatic mutations and/or epigenetic changes to disease risk, we performed whole genome sequencing and methylation analyses using samples from multiple tissues on a cohort of 26 monozygotic twins discordant for ALS, followed by in-depth validation and replication experiments. The results of these analyses implicate several mechanisms in ALS pathophysiology, which include a role for de novo mutations, defects in DNA damage repair and accelerated aging.

Place, publisher, year, edition, pages
Elsevier, 2023. Vol. 122, p. 76-87
Keywords [en]
Amyotrophic Lateral Sclerosis, Genetic modifiers, Post-zygotic mutations, Repeat expansions
National Category
Neurology Neurosciences
Identifiers
URN: urn:nbn:se:umu:diva-201947DOI: 10.1016/j.neurobiolaging.2022.11.010ISI: 000906927400008Scopus ID: 2-s2.0-85143864996OAI: oai:DiVA.org:umu-201947DiVA, id: diva2:1722422
Funder
The Swedish Brain Foundation, 2012-0262The Swedish Brain Foundation, 2012- 0305The Swedish Brain Foundation, 2013-0279The Swedish Brain Foundation, 2016-0303Swedish Research Council, 2012-3167Swedish Research Council, 2017-03100Knut and Alice Wallenberg Foundation, 2012.0091Knut and Alice Wallenberg Foundation, 2014.0305Swedish Association of Persons with Neurological DisabilitiesTorsten Söderbergs stiftelseRagnar Söderbergs stiftelseRegion VästerbottenKonung Gustaf V:s och Drottning Victorias FrimurarestiftelseAvailable from: 2022-12-29 Created: 2022-12-29 Last updated: 2023-09-05Bibliographically approved

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Nordin, AngelicaAndersen, Peter M.

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