DYNLL2
dynll2: A Key Player in Cardiovascular Health and Disease
Description
Dynll2 (dynein light chain LC8 type 2) is a protein that plays a crucial role in the functioning of cilia, hair-like structures that project from cells. Cilia are essential for various biological processes, including cell movement, fluid transport, and sensory perception. In the heart, cilia play a critical role in controlling the rhythmic contractions of the heart muscle.
Associated Diseases
Mutations in the dynll2 gene have been linked to several cardiovascular diseases, including:
- Primary ciliary dyskinesia (PCD): PCD is a rare genetic disorder characterized by impaired ciliary function. Patients with PCD experience a range of symptoms, including chronic respiratory infections, hearing loss, and situs inversus (a mirror-image transposition of the internal organs).
- Congenital heart defects: Mutations in dynll2 have been associated with an increased risk of congenital heart defects, such as atrial septal defects (holes in the heart wall) and ventricular septal defects (holes in the septum that separates the heart's ventricles).
- Cardiomyopathy: Dynll2 mutations can also lead to cardiomyopathy, a condition characterized by weakening of the heart muscle. Cardiomyopathy can cause heart failure and arrhythmias (irregular heartbeats).
Did you Know ?
Approximately 20% of patients with PCD have mutations in the dynll2 gene, making it one of the most common genetic causes of this disorder.
