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UF Health researchers uncover biological clues behind childhood scoliosis

Adolescent idiopathic scoliosis occurs in boys and girls, but progressive cases are far more common in girls.
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Adolescent idiopathic scoliosis occurs in boys and girls, but progressive cases are far more common in girls.

A study identifies gene activity differences in spinal tissue, offering insight into a condition whose causes remain largely unknown.

A University of Florida study is shedding new light on the biological changes linked to adolescent idiopathic scoliosis, an abnormal curvature of spine found in many children.

The researchers said their work could eventually lead to ways of identifying children at risk before their spinal curvature becomes severe enough to require surgery. Current treatment often begins after a curve has developed, with the focus on slowing progression rather than prevention.

Adolescent idiopathic scoliosis (AIS) affects up to 3% of children worldwide. The condition typically develops during periods of rapid growth and is more likely to progress in girls. The gender differences are not totally understood, according to the Spine Health Foundation.

The term idiopathic means the cause is unknown. Although genetic, metabolic, hormonal and biomechanical factors are considered factors, the Spine Foundation said.

The researchers looked at gene activity in spinal tissue from adolescents with scoliosis and people without the condition, identifying differences that could eventually help doctors detect the disease earlier, according to an email from UF Health Communications.

The team studied two types of tissue involved in spinal development: cartilage in the spine and nearby muscle tissue. Researchers found that both tissues showed different patterns of gene activity in patients with AIS, suggesting the condition may result from several biological processes happening at the same time.

The study also found changes in genes involved in cartilage development and in muscle function, including genes that help muscles contract and maintain strength. Researchers say the findings provide a clearer picture of what is happening at the molecular level in people with scoliosis.

“This study gives us one of the clearest pictures yet of what is happening at the molecular level in scoliosis patients,” said the study's lead author, Nadja Makki, an assistant professor in the UF College of Medicine’s Department of Physiology and Aging. “Now, we basically have a list of genes that we can sort, and we can see exactly which of those are behaving differently in spinal tissues affected by scoliosis.”

Researchers say future studies will build on these findings as they look for ways to make scoliosis treatment more proactive.

“If we could identify these patients prior to them developing that large curvature, then we could put that child in a brace, or we could do scoliosis-specific exercises,” said Dr. Jessica McQuerry, a pediatric orthopedic surgeon and assistant professor at UF. “We have preventive therapies that do work, but we don’t know who to use them on.”

I’m the online producer for Health News Florida, a collaboration of public radio stations and NPR that delivers news about health care issues.
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