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Researchers identify a new genetic mutation that causes a form of early-onset, fast-progressing Alzheimer's disease

Wednesday 11 August 2021

In an article published in the Science Translational Medicine journal on 11 August, a team of researchers led by Prof. Martin Ingelsson describe a rare, inherited genetic mutation that causes a form of early-onset Alzheimer's disease (AD).

One of the pathological hallmarks of AD is the accumulation of amyloid plaques in the brain. These plaques are composed of amyloid beta proteins, which are encoded by a gene called APP (amyloid precursor protein). Several genetic mutations in APP have previously been reported, and are associated with the development of AD and dementia.

In their Science Translational Medicine article, Prof. Ingelsson and colleagues report a new mutation in APP, which was discovered in a family from Uppsala, Sweden.  Molecular analyses showed that the Uppsala mutation is composed of a short deletion in the genetic sequence of APP, which results in the increased production of damaging amyloid beta proteins that have a higher propensity to aggregate in the brain. Analysing the clinical course of disease in three family members with the novel mutation, researchers found that the age of onset was generally in the early 40's, with symptoms including memory loss and problems with language, and rapid disease progression to severe dementia.