The Mode of Inheritance of Scheuermann’s Disease

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...

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Bibliographic Details
Published in:BioMed research international 2013-01, Vol.2013 (2013), p.1-9
Main Authors: Mikhailovsky, M. V., Kalashnikova, E. V., Korel, A. V., Strokova, E. L., Zaidman, M. N., Zaidman, A. M., Rusova, T. V.
Format: Article
Language:English
Subjects:
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
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Summary: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.
ISSN:2314-6133
2314-6141
DOI:10.1155/2013/973716