Disrupted Delivery

Inside each cell, a fleet of delivery vehicles ferry packages from A to B, ensuring proteins and nutrients are efficiently deposited where they are needed most. Any malfunction of these transporters, called endosomes, can cause traffic jams and protein pileups. WASHC4 (green in the mouse brain section pictured) is a protein involved in endosome trafficking, and previous research has shown that children with a genetic mutation affecting this protein have trouble learning. To investigate, researchers replicated this mutation in mice. The mice developed fewer WASHC4 proteins, oversized endosomes, and an excess of proteins that break down material, causing a build up of debris. The mice with this disrupted delivery system showed learning difficulties and developed movement problems that worsened with age, also found in patients with the mutation. Understanding the molecular basis for the physical symptoms could lead to new approaches to treatment or, even better, prevention.

Written by Anthony Lewis

Anthony Lewis

Writer

Ant was the web editor in the early days of BPoD, and has since worked with the UK’s top science organisations as a writer and multimedia producer. He now splits his time between freelance work and managing multimedia at The Lancet.

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• Image from work by Jamie L Courtland and Tyler WA Bradshaw, and colleagues
• Duke University School of Medicine, Durham, NC, USA
• Image originally published with a Creative Commons Attribution 4.0 International (CC BY 4.0)
• Published in eLife, March 2021