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Identification of Low Allele Frequency Mosaic Mutations in Alzheimer Disease

Frigerio, CS; Fiers, M; Voet, T; De Strooper, B; (2017) Identification of Low Allele Frequency Mosaic Mutations in Alzheimer Disease. In: Frade, JM and Gage, FH, (eds.) Genomic Mosaicism in Neurons and Other Cell Types. (pp. 361-378). Humana Press: New York, NY, USA. Green open access

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Abstract

Germline mutations ofAPP,PSEN1, andPSEN2 genes cause autosomal dominant Alzheimer disease (AD). Somatic variants of the same genes may underlie pathogenesis in sporadic AD, which is the most prevalent form of the disease. Importantly, such somatic variants may be present at very low allelic frequency, confined to the brain, and are thus very difficult or impossible to detect in blood-derived DNA. Ever-refined methodologies to identify mutations present in a fraction of the DNA of the original tissue are rapidly transforming our understanding of DNA mutation and their role in complex pathologies such as tumors. These methods stand poised to test to what extend somatic variants may play a role in AD and other neurodegenerative diseases.

Type: Book chapter
Title: Identification of Low Allele Frequency Mosaic Mutations in Alzheimer Disease
ISBN-13: 978-1-4939-7280-7
Open access status: An open access version is available from UCL Discovery
DOI: 10.1007/978-1-4939-7280-7_17
Publisher version: https://doi.org/10.1007/978-1-4939-7280-7_17
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Single- cell sequencing, Mosaicism, Somatic variant, Alzheimer’s disease, Parkinson’s disease
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > UK Dementia Research Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UK Dementia Research Institute HQ
URI: https://discovery.ucl.ac.uk/id/eprint/10024588
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