Study shows why people with Down’s syndrome develop Alzheimer’s disease

Down-syndrome-adult

People with Down’s syndrome typically develop Alzheimer’s disease by middle age, including the amyloid plaques that are the hallmark of the disease. The extra copy of the β-amyloid precursor protein (APP) gene on chromosome 21 is thought to contribute to this neuropathology, but the precise mechanisms are unclear.

Writing in Cell Reports
[1]
(online, 23 October 2014), researchers led by Huaxi Xu, from Sanford-Burnham Medical Research Institute, La Jolla, California, say they have identified a key protein that regulates β-amyloid. Levels of “sorting nexin 27” protein are significantly reduced in people with Down’s syndrome, they say, which indirectly (via the gamma-secretase enzyme) promotes β-amyloid production and amyloid plaque formation.

“Our study establishes a molecular mechanism for β-amyloid-dependent pathogenesis in both Down’s syndrome and Alzheimer’s disease,” write Xu and co-authors.

References

 

[1] Wang X, Huang T, Zhao Y et al. Sorting Nexin 27 Regulates Aβ Production through Modulating y-Secretase Activity. Cell Reports 2014. doi:10.1016/j.celrep.2014.09.037 (accessed 23 October 2014).

Last updated
Citation
The Pharmaceutical Journal, PJ, 8 November 2014, Vol 293, No 7835;293(7835):DOI:10.1211/PJ.2014.20066978