Missing Link Identified

It’s well known that people with an inherited genetic condition called Gaucher disease also have an increased risk of developing Parkinson’s disease. But it’s not been known why this is. Now research in mice suggests the missing link is the build-up of a fatty molecule, called glucosylsphingosine. This accumulated in the brains of young mice engineered to have a Gaucher-like condition. The image shows a region of a mouse brain called the hippocampus, with glucosylsphingosine in blue. Over time, as the mice aged, the build-up of glucosylsphingosine was accompanied by the clumping of a protein, called alpha-synuclein (yellow). These clumps are a hallmark of Parkinson’s disease. This accumulation and clumping may also happen in the brains of people with Gaucher disease, who are known to have mutations in an enzyme which breaks down fatty molecules. The researchers suggest that these enzymes could be targeted by future treatments for Gaucher disease.

Written by Deborah Oakley

Deborah Oakley

Writer

Deborah is researching healthy cognitive ageing at the University of Cambridge. She previously worked as a science communicator in London, working closely with the BPoD team.

• Image from work by Yumiko V. Taguchi and colleagues, published on the cover of Journal of Neuroscience
• Yale University School of Medicine, New Haven, CT, USA
• Image reproduced with permission from the Journal of Neuroscience
• Research published in Journal of Neuroscience, October 2017