adolescent idiopathic scoliosis
Scoliosis Traced to Problems in Spinal Fluid Flow
Posted on by Dr. Francis Collins
Caption: Normal zebrafish (top left) and a normal skeleton (bottom left); zebrafish with scoliosis (top right) and an abnormal scoliotic skeleton (bottom right).
Credit: Grimes DT, Boswell CW, Morante NF, Henkelman RM.
Many of us may remember undergoing a simple screening test in school to look for abnormal curvatures of the spine. The condition known as adolescent idiopathic scoliosis (IS) affects 3 percent of children, typically showing up in the tween or early teen years when kids are growing rapidly. While scoliosis can occur due to physical defects in bones or muscles, more often the C- or S-shaped spinal curves develop for unknown reasons. Because the basic biological mechanisms of IS have been poorly understood, treatment to prevent further progression and potentially painful disfigurement has been limited to restrictive braces or corrective surgery.
Now, in work involving zebrafish models of IS, a team of NIH-funded researchers and their colleagues report a surprising discovery that suggests it may be possible to develop more precisely targeted therapeutics to reduce or even prevent scoliosis. The team’s experiments have, for the first time, shown that mutation of a gene associated with spinal curvature in both zebrafish and humans has its effect by altering the function of the tiny hair-like projections, known as cilia, that line the spinal cord. Without the cilia’s normal, beating movements, the fluid that bathes the brain and spinal cord doesn’t flow properly, and zebrafish develop abnormal spinal curves that look much like those seen in kids with scoliosis. However, when the researchers used genetic engineering to correct such mutations and thereby restore normal cilia function and flow of cerebral spinal fluid (CSF), the zebrafish did not develop spinal curvature.
Bracing Successfully Treats Spine Curvature in Adolescents
Posted on by Dr. Francis Collins
When the results of a clinical trial are remarkably good, or bad, we end the trial early to translate the findings into action. Today I’m happy to share exciting news about a trial that was stopped early because of a good outcome. This was an NIH-funded clinical trial that investigated the benefits of wearing a back brace for tweens and teens who suffer from a spine curvature called adolescent idiopathic scoliosis (AIS), which affects up to 3% of children and teens between ages 10 and 16. The trial revealed, overwhelmingly, that such a brace stops the progression of curves before they require surgery [1].
