Researchers from the University College London have discovered a new gene associated to a rare disease, which induces respiratory problems similar to cystic fibrosis.
Primary ciliary dyskinesia (PCD) is an inherited condition, which affects cilia. These are the hair-like projections that line the respiratory tract and forms a part of the body’s defence mechanism to fight against microbes that enter into lungs.
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University College London researcher Dr Hannah Mitchison who led the study said: “Our research means that we can now give more patients a genetic diagnosis.
“Having a better understanding of the genetics behind PCD means we can begin to identify which mutations cause the most severe problems in patients, and tailor treatment to them.”
A research was carried out on a family where two children had PCD, the genetic cause was unknown.
The genes of the affected children were examined by the researchers, who compared them with the DNA of their healthy family members.
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By GlobalDataThe mutation was observed in the CCDC151 gene, which can be corrected through a genetic therapy called read-through therapy, according to researchers.
Mitchison added: “Read-through therapy is currently being tested in people with cystic fibrosis and we think it’s promising for this type of mutation in PCD patients.
“We’re only just beginning to understand the correlations between the type of gene variant a person has, and the severity of their condition.
“Having a better understanding of the genes that cause PCD will allow us to think about genetically-targeted therapies going forward.”
Overall, an estimated one in 20,000 people are affected with PCD, which causes chronic respiratory problems similar to those seen in cystic fibrosis, as well as causing hydrocephalus and infertility.
