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The study is the first to link spinal curvature to mutations in genes that govern motile cilia, which stick out from cells and make synchronous whip-like motions to push fluid through narrow passages such as the spinal column. Researchers in the Burdine laboratory had observed that mutant genes that disrupt cilia motility produce spinal curves in zebrafish as adults, although the work had not been published.

Previous research by Ciruna's lab revealed that mutations in a gene found in zebrafish and humans called protein tyrosine kinase-7 ptk7 causes spinal curvature during a period of rapid growth that corresponds to adolescence in zebrafish. Published in the journal Nature Communications in , the findings suggested that the mutant fish could serve as a model for studying the condition.

Mutated Cilia Genes Shown to Lead to Scoliosis

The researchers knew that the ptk7 gene plays a role in helping cells orient in the correct direction during embryonic development, but they didn't know that it also governed the formation of motile cilia. To explore how ptk7 mutations lead to spine curvature in zebrafish, Curtis Boswell, a graduate student at the University of Toronto, examined the brains and spinal cords of fish with mutated ptk7.

In brain ventricles, which sit at the top of the spinal cord, the motile cilia were sparse and malformed and the fish developed a brain-swelling condition called hydrocephalus, which is associated with loss of cilia function. Using fluorescent dyes to track the flow of cerebrospinal fluid through the ventricles, the researchers saw that the flow was irregular and slower than normal.

Key points

When the researchers introduced a nonmutated version of the ptk7 gene specifically into tissues harboring motile cilia, the hydrocephalus disappeared, the cerebrospinal fluid began to flow normally and the spine straightened. Ciruna said.

The next step will be to understand the mechanisms by which disrupted cerebrospinal fluid flow causes the spine to curve, according to Dr. Log in to leave a comment. This site uses Akismet to reduce spam. Learn how your comment data is processed. Top 10 U. Biopharma Clusters. Controlling Impurities in Cell Culture Media. Top 10 Companies Leveraging Gene Editing in Looking Into a Crystal Ball. Breakthroughs in Immunotherapy.

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Less common types of scoliosis may be caused by:. While most people with scoliosis have a mild form of the disorder, scoliosis may sometimes cause complications, including:. Mayo Clinic does not endorse companies or products. Advertising revenue supports our not-for-profit mission. This content does not have an English version. This content does not have an Arabic version. Scoliosis Viewed from the side, the normal spine takes the form of an elongated S, the upper back bowing outward and the lower back curving slightly inward.

Request an Appointment at Mayo Clinic. Share on: Facebook Twitter. References Scoliosis in children and adolescents. Accessed May 3, Introduction to scoliosis. American Academy of Orthopaedic Surgeons. Kliegman RM, et al. The spine. In: Nelson Textbook of Pediatrics.

Genetics and pathogenesis of idiopathic scoliosis

Philadelphia, Pa. Scherl SA.

The Genetics and Development of Scoliosis

Adolescent idiopathic scoliosis: Clinical features, evaluation and diagnosis. Ferri FF.


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In: Ferri's Clinical Advisor Adolescent idiopathic scoliosis: Management and prognosis. Shaughnessy WJ expert opinion. Mayo Clinic, Rochester, Minn. June 5,