Gene Expression May Help With Scoliosis Detection

Category: Scoliosis | Author: Stefano Sinicropi | Date: April 28, 2016

scoliosis and dna

Scoliosis is defined as the abnormal twisting of the spine that can present itself as a birth defect or develop during a person’s teenage years. Treatment outcomes are more successful if scoliosis is detected at an early stage, and researchers in Japan say they may have uncovered a new avenue to better identify problematic cases of scoliosis. According to researchers, the expression of an overactive gene known as ladybird homeobox 1 (LBX 1) may kickstart a chain reaction that causes the spine to grow abnormally.

“A genetic test called the ScoliScore AIS Prognostic Test already exists for adolescents recently diagnosed with scoliosis to predict if the curve of the spine will get worse, which can guide treatment decisions,” said study author Professor Chisa Shukunami. “Studies like ours that identify genes important in causing scoliosis can help further develop this current prognostic test into a clinically predictive genetic test to identify scoliosis before symptoms occur.”

Scoliosis Study

Researchers noted that scoliosis is a polygenetic disease, meaning that mutations in multiple genes are responsible for the condition. One gene in particular caught their attention – LBX 1. By genetically modifying zebrafish, researchers were able to come to a crucial understanding of how the under- and overexpression of this gene impacts spinal development.

Researchers genetically modified the expression of this gene in zebrafish at different stages of their life. After looking at the complete set of data, researchers uncovered:

  • Underexpression of the LBX 1 gene had no ill effects on spinal development.
  • Zebrafish that were genetically modified to have overexpression of the LBX 1 gene in the embryonic stage showed wider backbones and back muscles than normal fish, suggesting that a similar expression in humans is responsible for birth defect-related scoliosis in humans.
  • Some zebrafish that were genetically modified to have overexpression of the LBX 1 gene throughout their entire lives, but only in some cells, developed bones with the correct shape, but their spines grew curved as they entered adulthood, mirroring a pattern seen in adolescent-onset scoliosis in humans.
  • Adolescent-onset scoliosis in humans is more common in girls, and researchers noted that female fish developed scoliosis more frequently than male fish.

Although he was satisfied with the study, Professor Shukunami said that “greater understanding of the genetic mechanisms that lead to adolescent-onset scoliosis is necessary before any genetic interventions for clinical treatments can be designed.”

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