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About Sickkids
About SickKids

October 16, 2014

SickKids scientist uses zebrafish to better understand causes of scoliosis

By Christine Wolfl


Brian Ciruna, Senior Scientist in Developmental & Stem Cell Biology at The Hospital for Sick Children (SickKids), is studying zebrafish to understand the genetics of scoliosis.

His article, ptk7 mutant zebrafish models of congenital and idiopathic scoliosis implicate dysregulated Wnt signaling in disease, was published in Nature Communications in September 2014. This development brings Ciruna one step closer to his long-term goal of finding therapies that can suppress spinal curve progression.

“Our zebrafish genetic models are unique tools that will allow us to understand the biological causes of idiopathic scoliosis. There is still a lot we need to learn, but we are making strides towards an understanding of the disease,” said Ciruna. “Right now, treatment options for idiopathic scoliosis are limited to bracing and/or surgery. The availability of a non-invasive pharmacological treatment would represent a breakthrough for the field.”

Scoliosis is a genetic disorder of the musculoskeletal system, causing three-dimensional rotation of the spine. There are multiple forms. Congenital scoliosis is caused by malformed vertebrae and affects children from birth, whereas idiopathic scoliosis develops in otherwise healthy individuals and usually becomes apparent during puberty. About three per cent of children are affected by idiopathic scoliosis worldwide, with approximately 1,200 children visiting the SickKids Scoliosis Clinic every year. Spinal curvature can cause debilitating pain, disfigurement and other health problems.

“The protein tyrosine kinase 7 (ptk7) mutant zebrafish develops late-onset spinal disease that has all the hallmarks and attributes of human adolescent idiopathic scoliosis. It is perhaps the first genetic model that we can use to understand the causes of the disease,” said Ciruna.

Once more is known about the implications of this research, the fish may be used to identify therapeutic agents capable of preventing disease progression.

“We’re really excited because this is something that we’ve known little about until this point. There are many human genetic studies conducted and we’ve seen genes that have been implicated in this disease but, until now, scientists have been limited in their abilities to generate relevant animal models for study,” said Ciruna.