ciliopátiákkal

Ciliopathies are a class of genetic disorders caused by defects in the structure or function of cilia. Cilia are small, hair-like appendages that protrude from the surface of most eukaryotic cells. They play crucial roles in a wide range of cellular processes, including motility, sensory perception, and intracellular transport.

There are two main types of cilia: motile cilia and primary (non-motile) cilia. Motile cilia are involved in moving fluids across cell surfaces, such as in the respiratory tract or the reproductive system. Primary cilia, on the other hand, act as cellular antennae, sensing external stimuli and mediating signaling pathways.

Disruptions in ciliary function can lead to a diverse spectrum of diseases, known collectively as ciliopathies. These conditions can affect multiple organ systems and manifest with a wide array of symptoms. Common features of ciliopathies include developmental abnormalities, neurological deficits, kidney disease, skeletal malformations, and visual impairment.

Examples of well-known ciliopathies include polycystic kidney disease (PKD), Bardet-Biedl syndrome (BBS), Joubert syndrome, and primary ciliary dyskinesia (PCD). The specific clinical presentation depends on the gene affected and the role of the protein in ciliary function. Research into ciliopathies is ongoing, aiming to understand the underlying mechanisms and develop effective therapeutic strategies.