Wonky Antenna

If you tried to follow a recipe being broadcast on the radio, but your radio’s antenna was broken and the signal patchy, you might end up with garbled instructions and inedible dinner. A new study suggests something similar might be happening in patients with Carpenter syndrome – a condition which shares many clinical features with disorders caused by defective cilia (tiny hair-like projections that act as antennae or miniature motors). Researchers examined the effects of silencing the gene linked to Carpenter syndrome, RAB23, in mice, zebrafish, and stem cells induced from patient skin cells (pictured, green and red showing markers of functional stem cells). They discovered mutations in the gene cause misshapen or shortened cilia in some cells but not others, and impede crucial molecular signalling pathways. Direct evidence of these cell-specific impacts highlight dysfunctional cilia’s role in Carpenter syndrome, confirming it as a ciliopathy, deepening understanding of the condition’s development.

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.

Website

• Image from work by Wan Ying Leong & Catherine Hong Huan Hor, and colleagues
• Department of Chemistry, Faculty of Science, Hong Kong Baptist University, Kowloon, Hong Kong; Neuroscience Academic Clinical Programme, Duke-NUS Medical School, Singapore, Singapore
• Image originally published with a Creative Commons Attribution 4.0 International (CC BY 4.0)
• Published in PLOS Genetics, August 2025