Gene Variant Seen in Cases of Severe Scoliosis

Researchers from Washington University School of Medicine. St. Louis have discovered a link between severe scoliosis and a gene variant that interferes with the body’s ability to absorb and use manganese, an essential element for bone and cartilage development. Senior author Christina Gurnett, MD, PhD, professor of neurology, orthopedic surgery and pediatrics, commented, “Our study links a common disease – scoliosis – to something that’s potentially modifiable in the diet. But we don’t want people to go out right now and start manganese supplements, because we already know that too much manganese can be harmful.” Scoliosis is diagnosed in about 3 million children annually, with cases ranging from mild and requiring no intervention to severe, which necessitates surgical correction.

The research team scanned the genes in 457 children with severe scoliosis and 987 children without the condition. A variant in the gene SLC39A8 was found in 12% of the scoliosis sufferers, but only 6% of the healthy controls. A second, larger population analysis again found the gene variant in twice as many scoliosis patients as compared to a control group. Human cells with the gene variant were found to successfully absorb zinc, but not manganese, according to the authors, and study subjects with the variant had significantly lower levels of manganese in their blood, although still within normal range. First author Gabriel Haller, PhD, observed. “The genetic variant does not stop the gene from working entirely, it’s just not working optimally. So maybe most people need a certain level of manganese in their blood, but if you have a bad gene variant like this one, you need more.” The authors caution, however, that because manganese is both an essential mineral and a toxin, any supplementation would need to be closely monitored. The findings were published earlier this week in Nature Communications.

Read about the findings.

The journal article may be read here.