Scientists have identified a gene linked to Primary Ciliary Dyskinesia (PCD), a rare respiratory condition which affects one in 20,000 people.
PCD causes the cilia lining a person’s respiratory tract to not function correctly. Cilia are hair like protrusions that help the body clear mucus from the lungs. Because their cilia don’t function correctly, PCD patients have reduced mucus clearance. This leads to symptoms similar to cystic fibrosis and a much higher susceptibility to respiratory infections, including bronchitis and pneumonia.
The new study was led by Dr. Hannah Mitchison from University College London. She and her team looked at the genes of a family who had two kids with PCD. They compared the genes of those kids with the genes of the healthy family members, and found that the important difference was a mutation in a gene known as CCDC151.
The mutation is a type of “nonsense mutation”, which the National Human Genome Research Institute defines as “the substitution of a single base pair that leads to the appearance of a stop codon where previously there was a codon specifying an amino acid.” If you, like me, are not a geneticist you probably found that definition confusing. But the important thing to know about nonsense mutations is that scientists are working on a new genetic therapy called “read-through therapy” to help fix them.
This therapy is being tested on cystic fibrosis patients, and scientists like Mitchison believe it could someday benefit PCD patients as well. Hopefully, this new genetic discovery and this new therapy will help create a brighter future for people living with PCD.