Cilia Protein Defects Implicated in More Diseases

Until recently, cilia were thought to be simple external cellular organelles, but now they are thought to play important roles in cell signaling, in sensing chemical and physical activity, in intracellular communication, and as photoreceptors. Cilia dysfunction has been implicated in congenital kidney disease, Bardet-Biedl syndrome, obesity, diabetes, and structural birth defects; inheritance of obesity and diabetes is multifactorial, whereas inheritance of single gene disorders is autosomal recessive or digenic (involving more than one site). Ciliary disorders can present with a broad spectrum of structural and physiologic anomalies, including polydactyly, cystic kidneys, structural abnormalities, and metabolic problems of the liver and ki…