The mode of inheritance of Scheuermann's disease

Biomed Res Int. 2013;2013:973716. doi: 10.1155/2013/973716. Epub 2013 Sep 12.

Abstract

The mode of Scheuermann's disease inheritance and its phenotypic traits in probands and their relatives were studied in 90 pedigrees (90 probands and 385 relatives). The disorder was identified as a genetically related pathology inherited by autosomal dominant type, controlled by a mutant major gene, as a kyphotic deformity without signs of vertebral bodies' anomaly and torsion. Morphological and biochemical studies showed disturbance in the structure of vertebral growth plate anterior aspects at the level of deformity, defects in proliferation and differentiation of chondrocytes, and change in proteoglycan spectrum in cells and matrix. Twelve candidate genes were studied in chondrocytes isolated from vertebral growth plates of patients with Scheuermann's disease. The study results included disorder in the IHH gene expression and preservation of the expression of PAX1, two aggrecan isoforms, link protein, types I and II collagen, lumican, versican, growth hormone and growth factor receptor genes, and proliferation gene. Preservation of the SOX9 gene (transcription gene) probably indicates posttranscriptional genetic disorders. The study is under way.

Publication types

  • Review

MeSH terms

  • Adult
  • Aged
  • Cell Differentiation / genetics*
  • Cell Proliferation
  • Chondrocytes / pathology*
  • Female
  • Genetic Association Studies
  • Growth Plate / growth & development*
  • Growth Plate / metabolism
  • Hedgehog Proteins / genetics
  • Humans
  • Male
  • Middle Aged
  • Paired Box Transcription Factors / genetics
  • Scheuermann Disease / genetics*
  • Scheuermann Disease / pathology

Substances

  • Hedgehog Proteins
  • IHH protein, human
  • Paired Box Transcription Factors
  • PAX1 transcription factor