The Mode of Inheritance of Scheuermann’s Disease

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.

A New Look at Causal Factors of Idiopathic Scoliosis: Altered Expression of Genes Controlling Chondroitin Sulfate Sulfation and Corresponding Changes in Protein Synthesis in Vertebral Body Growth Plates

“…Collagen II is the major collagen of the mature cartilage matrix. It constitutes the structural basis of the chondron and forms a chondrometabolic barrier together with PGs 24. Cartilage PGs perform metabolic, barrier, receptor, and other functions 31, 32.…”

“…Morphology, histochemistry, biochemistry, ultrastructural analysis. Morphological, histochemical, biochemical, and ultrastructural studies of cells and matrix growth plates of the vertebral bodies of patients with IS and of the control samples were performed according to protocols described previously 24.…”

Familial lumbar Scheuermann disease with idiopathic scoliosis in China

“…It has been reported that patients with AIS or Scheuermann disease have a family history of these diseases, but these patients were not confirmed to be diagnosed with both Sheuermann’ disease and AIS. [ 26 ]…”

Stress Injuries of the Spine in Sports

“…76 The etiology for Scheuermann's disease is multifactorial and complex, with a genetic as well as an environmental contribution. 77 Mechanical stress was also proposed as a contributing factor given its association with athletes and heavy manual labor. 76 Furthermore, experimental studies in young rats showed that repetitive strains produced histologic changes in end plates similar to that seen in Scheuermann's disease: disorganized endochondral ossification replaced by disorganized clumps of chondrocytes.…”

“…84 The degree of thoracic kyphosis required to make the diagnosis also fluctuates between 35 and 45 degrees, 85 with kyphosis as low as 25 degrees accepted. 77 A variant of Scheuermann's disease is also recognized, but confusingly has been called several names including lumbar, thoracolumbar, atypical, or type II Scheuermann's. [86][87][88] Lumbar Scheuermann's is also linked with athletic adolescents and is seen in sports including weightlifting, cheerleading, gymnastics, and skiing.…”