Wave Machine

These delicate waving pink fronds are cilia – tiny hairs on the surface of the cells lining the airways. They effectively act as tiny ‘brushes’, sweeping away gunky fluids containing nasty stuff like trapped bacteria, viruses and dirt. Cilia are found in other parts of the body that need help keeping things moving, such as the fallopian tubes that carry eggs to the womb, or the fluid-filled cavities in the brain. People with the rare genetic condition primary ciliary dyskinesia (PCD) have defective cilia, causing a range of health problems including lung disease and infertility. While around 40 specific gene faults responsible for PCD have been found, accounting for around 70% of patients, many are still left without an explanation. Researchers have now found that faults in a gene called CFAP57 cause PCD – the first time that this gene has been linked to the condition – pointing towards new ideas for treatment.

Written by Kat Arney

Kat Arney

Writer

Dr Kat Arney is an award-winning science writer, broadcaster and public speaker, and is the founder and Creative Director of First Create The Media.

Website

• Image from work by Ximena M. Bustamante-Marin and Amjad Horani, and colleagues
• Department of Pathology and Laboratory Medicine and the Marsico Lung Institute, University of North Carolina, Chapel Hill, NC and Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA
• Image originally published with a Creative Commons Attribution 4.0 International (CC BY 4.0)
• Published in PLOS Genetics, August 2020