Two newly implicated genes reveal why some patients' cilia cannot clear mucus in the lungs
Hair-like appendages called motile cilia beat in synchrony on cells in many parts of the body to keep fluids and particles moving, such as clearing mucus in the lungs so it can be coughed out.
Recently, a study published in Science has shed new light on why some patients with primary ciliary dyskinesia (PCD) struggle to clear mucus from their lungs. Researchers at Harvard Medical School and University Children's Hospital Münster, Germany, have identified two new genes implicated in PCD by unraveling the structure of a previously understudied region of the cilium called the transition zone.
This finding could help diagnose the disease more accurately and guide the development of new treatments. Motile cilia, hair-like appendages on cells that beat in synchrony, are responsible for moving fluids and particles in many parts of the body, including clearing mucus in the lungs. Genetic mutations can compromise ciliary function, leading to diseases such as PCD, which affects the respiratory tract, inner ear, heart, and reproductive tract.
The transition zone, located at the base of cilia, is a key area where abnormalities can disrupt cilia structure and function. Using advanced cryo-FIB-ET imaging technology, researchers captured the structure of the transition zone at the subnanometer level, revealing nine types of proteins. They found that mutations in two proteins—ECT2L and DZANK1—disrupt the linker complexes connecting major cilia components, altering ciliary shape and function.
These mutations prevent cilia from beating in synchrony and clearing mucus, leading to the respiratory symptoms associated with PCD.
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