28.08.2016 change 28.08.2016

Sinusitis or a serious genetic disease?

Polish researcher identified three new genes whose mutation causes immotile ciliary syndrome - a severe disease associated with chronic inflammation of the respiratory tract, sinuses, ears, situs inversus and infertility. One of these genes has already been introduced into a new diagnostic test that allows to identify the disease in patients and not confuse it with common infections.

Dr. Małgorzata Kurkowiak from the Department of Immunology, Medical University of Warsaw investigated the genetic basis of immotile ciliary syndrome, also known as primary ciliary dyskinesia (PCD). The disease is associated with improper structure and function of cilia lining the respiratory system. Patients have it from birth, it occurs once in about 10 thousand live births. Patients suffer from recurrent infections of the upper and lower respiratory tract and sinusitis. The cilia move incorrectly or not at all, resulting in mucus accumulation in airways. This, in turn, promotes the growth of bacteria responsible for infections. A major consequence of ciliary dyskinesia is infertility.

PCD diagnosis is often based on an analysis of the structure of cilia defects, but the techniques used in the structure analysis are complicated and not widely available. In addition, they return ambiguous results. Moreover, there are patients with impaired cilia function which, however, have correct structure.

"Therefore, researchers are looking for genes whose mutations are responsible for the occurrence of this disease to diagnose it better and above all faster. More than 30 such genes are already known. In the course of my dissertation I identified three new genes that are involved in the pathogenesis of the disease, and a total of 10 mutations of those genes. One of the genes I described has been included in the most comprehensive PCD diagnostic panel to date, available in the United States from the beginning of this year. Soon, such tests should also be available in Poland" - said the researcher.

She explained these test involve isolating DNA from the patient\'s blood, and then searching for mutations in the genes contained in the panel. Analysts examine whether a person has a mutation in one of the 30 genes responsible for primary ciliary dyskinesia.

"About 30-35 percent of all cases are explained by mutations in one of two genes, while the rest are mutations in one of the other genes. The point is to identify them. The problem is that only half of the patients exhibit situs inversus, characteristic for the primary ciliary dyskinesia. The remaining 50 percent, who have a correct organ system, the disease is difficult to diagnose at an early stage, and it is often confused with infections of the upper and lower respiratory tract or chronic sinusitis" - explained Dr. Kurkowiak.

She emphasised that knowledge and awareness of doctors is very important. In her opinion, if a patient comes with an infection again, it is worth considering whether or not the reason is primary ciliary dyskinesia and test for a mutation in the genes responsible for this disease, as this gives the final confirmation of the diagnosis of PCD.

PAP - Science and Scholarship in Poland, Karolina Duszczyk

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