Adolescent Idiopathic Scoliosis: Fishy Tales of Crooked Spines

Adolescent idiopathic scoliosis (AIS) is a common skeletal disorder, characterized by abnormal spine curvatures. In zebrafish, cilia-driven cerebrospinal fluid flow and urotensin II pathway activity are required for proper spine morphogenesis. Genetic studies with AIS patients now establish a conservation of the zebrafish findings in the etiology of the disease. Adolescent idiopathic scoliosis (AIS) is a common skeletal disorder, characterized by abnormal spine curvatures. In zebrafish, cilia-driven cerebrospinal fluid flow and urotensin II pathway activity are required for proper spine morphogenesis. Genetic studies with AIS patients now establish a conservation of the zebrafish findings in the etiology of the disease. dynein proteins that remain anchored to the microtubule core of cilia and drive ciliary motility. a monoamine neurotransmitter, with a catechol (benzene with two adjacent hydroxyl side groups) and a side-chain amine, such as epinephrine and norepinephrine. microtubule-based hairlike organelles that protrude from the cell surface and function in generating fluid flow (motile cilia) or signaling (primary cilia). in contrast to AIS, a spinal deformity caused by vertebrae that are not properly formed and manifest in the fetus or new born. a gene editing technique that uses an endonuclease and a guide RNA to target a specific region of DNA for alteration. chemosensory and mechanosensory neurons that reside along the third ventricle and spinal canal, with their ciliated cell bodies in direct contact with circulating CSF. a host of cytoplasmic chaperone-like proteins that participate in the correct folding of ciliary dyneins. glialike ciliated cells that line the cavities of the central nervous system. a large family of seven-pass transmembrane receptors that detect extracellular signals and elicit intracellular responses via G-protein signaling. minimum free energy of a sequence is the secondary structure with the lowest value of free energy (i.e., the energy released by folding a completely unfolded RNA molecule). mutations that cause a change in the protein sequence. a genetic disorder that arises from defective motility of cilia. pertaining to stimuli that are produced and perceived within an organism, like those relating to the position and movement of the body. single-base substitutions in the genome. SNVs that do not cause a change in the protein sequence. ray-finned fishes that make up the majority of current fish species. a family of small cyclic peptides with wide-ranging biological functions in the cardiovascular, muscular, nervous, endocrine, and renal systems. targeted sequencing of only the exons or the protein-coding regions of genes.