How PS1 mutations might drive development of Alzheimer's

11/17/2013 | Genetic Engineering & Biotechnology News

Loss of function does not contribute to the development of inherited Alzheimer's disease, according to research that looked at presenilin 1, a protein that drives the enzyme gamma-secretase to split certain proteins including the amyloid precursor protein. The "molecular scissors" of PS1 cause formation of amyloid beta fragments that could lead to neuron-killing plaques in the brain, according to research in Cell Reports. The study showed that PS1 mutations increase the likelihood of "bad cuts," which normally happen 20% of the time and lead to the formation of the potentially pathogenic amyloid fragments that are linked to AD.

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