Banking On ALS Risk

Risk assessment. Clinical, pathological and exome sequencing analysis are now available for brain tissue donated by families of more than 200 patients with ALS/FTD. [Image: Wellcome Images under CC BY-NC-ND 4.0 license.]

A new genomic resource may help scientists identify and validate risk factors for ALS. The compendium, published in January 2017 in Genomics Research, includes exome sequencing and C9orf72 genotyping analysis of frozen brain tissue donated by families of more than 1450 patients with neurodegenerative diseases including 220 people with ALS/FTD (Keogh et al., 2017). Clinical and pathological information is also available. The resource also includes genomic analysis of more than 350 controls without significant neuropathology for evaluating potential genetic risk factors for the disease. The brain tissue is available for further investigation by application to researchers worldwide.

The genomic resource, developed by MRC’s UK Brain Bank Network, may help researchers deduce whether multiple mutations contribute to the onset of ALS (see November 2014 news). This disease mechanism, known as oligogenicity, may underlie at least some forms of ALS including C9orf72, the most common form of the disease.

Reference:

Keogh MJ, Wei W, Wilson I, Coxhead J, Ryan S, Rollinson S, Griffin H, Kurzawa-Akanbi M, Santibanez-Koref M, Talbot K, Turner MR, McKenzie CA, Troakes C, Attems J, Smith C, Al Sarraj S, Morris CM, Ansorge O, Pickering-Brown S, Ironside JW, Chinnery PF. Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource. Genome Res. 2017 Jan;27(1):165-173. [PubMed].

Further Reading:

van Blitterswijk M, van Es MA, Hennekam EA, Dooijes D, van Rheenen W, Medic J, Bourque PR, Schelhaas HJ, van der Kooi AJ, de Visser M, de Bakker PI, Veldink JH, van den Berg LH. Evidence for an oligogenic basis of amyotrophic lateral sclerosis. Hum Mol Genet. 2012 Sep 1;21(17):3776-84 [PubMed].

disease-als disease-ftd topic-clinical topic-riskfactors
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