Molekulare und genetische Aspekte der idiopathischen Skoliose: Bluttest bei idiopathischer Skoliose

Translated title of the contribution: Molecular and genetic aspects of idiopathic scoliosis: Blood test for idiopathic scoliosis

A. Moreau, M. Y. Akoumé Ndong, B. Azeddine, A. Franco, P. H. Rompré, M. H. Roy-Gagnon, I. Turgeon, D. Wang, K. M. Bagnall, B. Poitras, H. Labelle, C. H. Rivard, G. Grimard, J. Ouellet, S. Parent, F. Moldovan

Research output: Contribution to journalArticlepeer-review

23 Citations (Scopus)

Abstract

Spinal deformities, and particularly scoliosis, are the most frequent forms of orthopedic deformities in children and adolescents. About 1-6% of the population has scoliosis. This disorder leads to severe spinal deformities and predominantly affects adolescent girls. Although the multifactorial origin of adolescent idiopathic scoliosis (AIS) is broadly recognized, the genetic causes of AIS are still largely unknown. Our previous studies suggested a generalized dysfunction of melatonin transduction (the hormone that is primarily produced in the brain and epiphysis). In the meantime we have demonstrated that such a defect of signal transduction is caused by chemical alterations, which inactivate the function of the inhibitory G protein-coupled melatonin receptors. This discovery has led to the development of the first blood test to detect children without symptoms who are at risk of developing scoliosis. Since a single function (cellular reaction to melatonin) is determined, the unique advantage of this test is that it can be performed without knowledge of mutations in defective genes that could provoke the onset of AIS.

Translated title of the contributionMolecular and genetic aspects of idiopathic scoliosis: Blood test for idiopathic scoliosis
Original languageGerman
Pages (from-to)114-121
Number of pages8
JournalOrthopade
Volume38
Issue number2
DOIs
Publication statusPublished - Feb 2009
Externally publishedYes

Keywords

  • Cellular dielectric spectroscopy
  • Early screening test
  • Idiopathic scoliosis
  • Lymphocytes
  • Melatonin transduction

ASJC Scopus subject areas

  • Orthopedics and Sports Medicine

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