All in the Genes

Credit: Ryan Gray

Scoliosis causes a curvature of the spine that’s commonly identified in adolescence. While the condition is not life-threatening, it can be painful and sometimes requires braces or surgery to correct. Up to 3% of the population experiences scoliosis, but its cause usually remains a mystery. What scientists classify as “idiopathic scoliosis,” or due to an unknown cause, applies in about 80% of cases. 

Gray and his team have identified genes that help maintain the health of tissues in the spine.

Ryan Gray, an assistant professor in the Department of Nutritional Sciences and in the Department of Pediatrics within Dell Medical School at The University of Texas at Austin, leads a research team working to uncover that cause. To do so, they are using a small tropical freshwater fish called zebrafish. By examining the connection between the movements of spinal fluid and cilia – tiny hair-like structures that beat back and forth – and the assembly of a structure within the spinal cord called the Reissner fiber, Gray found a genetic mutation that caused defects in cilia beating and disassembly of the Reissner fiber, causing scoliosis in these fish. 

Through experiments in mice, Gray and his team have identified additional genes that help maintain the health of tissues in the spine. Even minor mutations in these genes are associated with scoliosis, too. 

“We’ve uncovered this circular reinforcing loop that maintains the homeostasis of tissues in the spine,” Gray said. “We think that our studies are showing that idiopathic scoliosis reflects a connective tissue disorder.”

Nutrition and spinal development relate more to one another than many people realize. A key signaling pathway can be stimulated by, for example, caffeine. One of the genes that Gray studies also affects how fat cells develop and can be protective against obesity in male mice. This suggests a potential link between fat metabolism and the maintenance of a healthy spine.

“We’re excited to study the connection between fat metabolism, nutrition and connective tissue disorders,” Gray said. “This is potentially as close as we’ve ever come to finding a cause for idiopathic scoliosis.”