SHOX gene is expressed in vertebral body growth plates in idiopathic and congenital scoliosis: implications for the etiology of scoliosis in Turner syndrome.
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.
Day
Gregory
G
University of Queensland, Department of Surgery, Queensland, Australia. ggandlda@bigpond.net.au
Szvetko
Attila
A
Griffiths
Lyn
L
McPhee
I Bruce
IB
Tuffley
John
J
LaBrom
Robert
R
Askin
Geoffrey
G
Woodland
Peter
P
McClosky
Eamonn
E
Torode
Ian
I
Tomlinson
Francis
F
D000293:Adolescent; D000328:Adult; D001827:Body Height; D002356:Cartilage / Q000502:physiology; D002648:Child; D005260:Female; D015870:Gene Expression / Q000502:physiology; D006132:Growth Plate / Q000000981:diagnostic imaging / Q000502:physiology; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008159:Lumbar Vertebrae / Q000000981:diagnostic imaging / Q000502:physiology; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000502:physiology; D010641:Phenotype; D011859:Radiography; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012600:Scoliosis / Q000151:congenital / Q000000981:diagnostic imaging / Q000209:etiology* / Q000235:genetics*; D000074122:Short Stature Homeobox Protein; D013904:Thoracic Vertebrae / Q000000981:diagnostic imaging / Q000502:physiology; D014424:Turner Syndrome / Q000150:complications* / Q000235:genetics*
D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein