Gene variant in Inuit could be linked to respiratory illness, study suggests – Nunatsiaq News

May 12, 2023

New discovery could diagnose primary ciliary dyskinesia in Inuit for first time

The discovery of a previously unknown gene variant suggests a rare respiratory illness may be more common among Inuit than previously thought.

A study published last month in the Journal of Pediatric Pulmonology looks at the variant in a gene called DNAH11, which causes primary ciliary dyskinesia, or PCD.

PCD is a rare genetic disease affecting roughly one in every 10,000 to 40,000 people. It causes cilia, the microscopic hairs that line respiratory passages, to fail to move mucus out of the body. This traps bacteria and viruses in airways, leading to chronic infections and respiratory damage.

People with PCD tend to suffer severe and recurrent lung infections like pneumonia, a chronic clogged and runny nose, and severe and recurrent ear infections. In about half of PCD cases, a person’s organs are reversed, such as the heart being on the right side of the body instead of the left.

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