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20 August 2018

Gael Nicolas, a visiting scientist of the Human Genetics Department and Alexander Hoischen (photo), theme Infectious diseases and global health, and colleagues studied brain- and blood-DNA of sporadic early-onset Alzheimer’s disease (AD) patients, for somatic mutations in the known AD genes: e.g. APP, PSEN1, or PSEN2 using a very sensitive re-sequencing assay (smMIPs).

The scientists identified and confirmed nine somatic variants (allele fractions: 0.2%–10.8%); however the majority of variants may not have clinical consequences. Therefore they concluded that somatic variants in the autosomal dominant AD genes may not be a common cause of sporadic AD.

Publication: link.

 

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