A rare and controversial mutation in the phospholipase D3 (PLD3) protein — previously linked to Alzheimer’s disease — interferes with PLD3’s vital recycling function inside neurons. Matthew Schrag of Vanderbilt University Medical Center and colleagues report these new findings in a paper published April 8th in PLOS Genetics.
About 1 percent of people with Alzheimer’s disease carry a specific mutation in their PLD3 gene. The question of whether or not this mutation leads to Alzheimer’s disease has remained controversial, however, due to its rarity and because the protein’s function was previously unknown. In the new study, Schrag’s team delved deeper into the function of this gene and its link to the disease. The researchers found that PLD3 is located in lysosomes inside neurons. Lysosomes are highly acidic sacs of enzymes that act as the recycling system of the cell. PLD3 produces…
