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  • SHOX gene is expressed in vertebral body growth plates in idiopathic and congenital scoliosis: Implications for the etiology of scoliosis in turner syndrome

    Author(s)
    Day, Gregory
    Szvetko, Attila
    Griffiths, Lyn
    McPhee, I Bruce
    Tuffley, John
    LaBrom, Robert
    Askin, Geoffrey
    Woodland, Peter
    McClosky, Eamonn
    Torode, Ian
    Tomlinson, Francis
    Griffith University Author(s)
    Griffiths, Lyn
    Szvetko, Attila L.
    Year published
    2009
    Metadata
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    Abstract
    Reduced SHOX gene expression has been demonstrated to be associated with all skeletal abnormalities in Turner syndrome, other than scoliosis (and kyphosis). There is evidence to suggest that Turner syndrome scoliosis is clinically and radiologically similar to idiopathic scoliosis, although the phenotypes are dissimilar. This pilot gene expression study used relative quantitative real-time PCR (qRT-PCR) of the SHOX (short stature on X) gene to determine whether it is expressed in vertebral body growth plates in idiopathic and congenital scoliosis. After vertebral growth plate dissection, tissue was examined histologically ...
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    Reduced SHOX gene expression has been demonstrated to be associated with all skeletal abnormalities in Turner syndrome, other than scoliosis (and kyphosis). There is evidence to suggest that Turner syndrome scoliosis is clinically and radiologically similar to idiopathic scoliosis, although the phenotypes are dissimilar. This pilot gene expression study used relative quantitative real-time PCR (qRT-PCR) of the SHOX (short stature on X) gene to determine whether it is expressed in vertebral body growth plates in idiopathic and congenital scoliosis. After vertebral growth plate dissection, tissue was examined histologically and RNA was extracted and its integrity was assessed using a Bio-Spec Mini, NanoDrop ND-1000 spectrophotometer and standard denaturing gel electrophoresis. Following cDNA synthesis, gene-specific optimization in a Corbett RotorGene 6000 real-time cycler was followed by qRT-PCR of vertebral tissue. Histological examination of vertebral samples confirmed that only growth plate was analyzed for gene expression. Cycling and melt curves were resolved in triplicate for all samples. SHOX abundance was demonstrated in congenital and idiopathic scoliosis vertebral body growth plates. SHOX expression was 11-fold greater in idiopathic compared to congenital (n = 3) scoliosis (p = 0.027). This study confirmed that SHOX was expressed in vertebral body growth plates, which implies that its expression may also be associated with the scoliosis (and kyphosis) of Turner syndrome. SHOX expression is reduced in Turner syndrome (short stature). In this study, increased SHOX expression was demonstrated in idiopathic scoliosis (tall stature) and congenital scoliosis.
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    Journal Title
    Journal of Orthopaedic Research
    Volume
    27
    Issue
    6
    DOI
    https://doi.org/10.1002/jor.20801
    Subject
    Molecular Medicine
    Biomedical Engineering
    Clinical Sciences
    Human Movement and Sports Sciences
    Publication URI
    http://hdl.handle.net/10072/30913
    Collection
    • Journal articles

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