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disease (AD)

Phospholipase D3 (PLD3)

Human sample and in vitro studies suggest stimulating PLD3 activity could help treat a subset of patients with late-onset AD. In 29 samples from 14 different families with late-onset AD, sequence analysis identified rare variants in PLD3 that correlated with increased risk for late-onset AD. In human brain samples, PLD3 expression was lower in samples from patients with AD than in those from healthy individuals. In a mouse neuroblastoma cell line, overexpression of PLD3 decreased accumulation of extracellular pathogenic b-amyloid (Ab) proteins, whereas shRNA knockdown of PLD3 increased accumulation. Next steps include examining the effects of mutant and wild-type PLD3 levels on Ab levels in cell and animal models.

SciBX 7(4); doi:10.1038/scibx.2014.121
Published online Jan. 30, 2014

Patent status undisclosed; available for licensing through Washington University in St. Louis

Cruchaga, C. et al. Nature; published online Dec. 11, 2013;
Contact: Carlos Cruchaga, Washington University in St. Louis, St. Louis, Mo.