Study Ties Severe Scoliosis with Rare Mutation in Genes

The risk of developing severe scoliosis is much more in children with rare mutation in two genes, a new research reveals.

Researchers at Washington University School of Medicine, St Louis, successfully identified the genetic risk factor that increases children's chances of developing a curved spine or scoliosis. They claim that this occurs due to a rare mutation.

The sideways curvature of the spine is called Scoliosis and this condition often occurs during the growth spurt before puberty. This condition might occur due to cerebral palsy and muscular dystrophy but the cause is mostly unknown. Severe scoliosis is disabling as reduces the space within the chest making it difficult for the lungs to function well.

Mutation in two genes increases the risk of developing scoliosis by four-fold.

"We've had a difficult time finding ways to predict who will develop severe scoliosis, and these newly identified mutations have the potential to be very helpful," senior author Christina A. Gurnett, MD, PhD, said in a press statement.

Drugs currently used in the clinical trial are able to block the growth pathway that the two mutated genes fibrillin-1 and fibrillin-2 control. And the researchers state that if it is this pathway that is involved in scoliosis, then the same drugs can be used to prevent scoliosis in children with this rare mutation.

One to 3 percent of the general population has a mild curvature in the spine and in 1 in 10,000 children, scoliosis leads to curvature that can be corrected with surgery.

"These children often don't have any curvature of the spine early in adolescence, but then they go through a growth spurt, and that's when the curve appears," said Gurnett, associate professor of neurology. "Others have tried to predict severe disease using gender, age of onset and type of spine curve but haven't been very successful."

In this study the researchers looked at 91 subjects with acute scoliosis in which they sequenced the part of the DNA that encode the proteins.  Fibrillin-1 was the most mutated.

 Further, they sequenced the genes in 852 patients with scoliosis and 699 subjects with healthy spines. It was seen that those with the mutation in the two genes were four times more vulnerable to the risk of severe scoliosis.

The finding was documented in the Human Molecular Genetics.