Some mutations that boost the risk of Alzheimer's may also increase production of a form of amyloid-β, a peptide that is thought to contribute to the disease.
People who inherit specific mutations of the genes PSEN1 or PSEN2 nearly always develop a rare form of Alzheimer's disease. Randall Bateman and his team at the Washington University in St. Louis, Missouri, used stable isotope labelling and positron emission tomography to track production of amyloid-β in the brains (pictured) of 11 patients who carry PSEN mutations and 12 of their siblings who do not. Those with the mutation produced a long form of the peptide, called amyloid-β42, at a rate 18% higher on average than those without the mutation. Amyloid-β42 is the main component of amyloid plaques, which are found in the brains of patients with Alzheimer's.
Rights and permissions
About this article
Cite this article
Mutations alter brain amyloid. Nature 498, 275 (2013). https://doi.org/10.1038/498275d
Published:
Issue Date:
DOI: https://doi.org/10.1038/498275d
