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Integrative analysis of congenital muscular torticollis: from gene expression to clinical significance.

Authors
Yim, SY; Yoon, D; Park, MC; Lee, IJ; Kim, JH; Lee, MA; Kwack, KS; Lee, JD; Lee, JH; Soh, EY; Na, YI; Park, RW; Lee, K; Jun, JB
Citation
BMC medical genomics, 6 Suppl 2:S10-S10, 2013
Journal Title
BMC medical genomics
ISSN
1755-8794
Abstract
BACKGROUND: Congenital muscular torticollis (CMT) is characterized by thickening and/or tightness of the unilateral sternocleidomastoid muscle (SCM), ending up with torticollis. Our aim was to identify differentially expressed genes (DEGs) and novel protein interaction network modules of CMT, and to discover the relationship between gene expressions and clinical severity of CMT.



RESULTS: Twenty-eight sternocleidomastoid muscles (SCMs) from 23 subjects with CMT and 5 SCMs without CMT were allocated for microarray, MRI, or immunohistochemical studies. We first identified 269 genes as the DEGs in CMT. Gene ontology enrichment analysis revealed that the main function of the DEGs is for extracellular region part during developmental processes. Five CMT-related protein network modules were identified, which showed that the important pathway is fibrosis related with collagen and elastin fibrillogenesis with an evidence of DNA repair mechanism. Interestingly, the expression levels of the 8 DEGs called CMT signature genes whose mRNA expression was double-confirmed by quantitative real time PCR showed good correlation with the severity of CMT which was measured with the pre-operational MRI images (R2 ranging from 0.82 to 0.21). Moreover, the protein expressions of ELN, ASPN and CHD3 which were identified from the CMT-related protein network modules demonstrated the differential expression between the CMT and normal SCM.



CONCLUSIONS: We here provided an integrative analysis of CMT from gene expression to clinical significance, which showed good correlation with clinical severity of CMT. Furthermore, the CMT-related protein network modules were identified, which provided more in-depth understanding of pathophysiology of CMT.
MeSH terms
AdultBiological Markers/*metabolismCase-Control StudiesChildChild, PreschoolFemale*Gene Expression Profiling*Gene Regulatory NetworksHumansImmunoenzyme TechniquesInfantMagnetic Resonance ImagingMaleOligonucleotide Array Sequence AnalysisProtein Interaction MapsRNA, Messenger/geneticsReal-Time Polymerase Chain ReactionReverse Transcriptase Polymerase Chain ReactionTorticollis/*congenital/genetics/metabolism/pathology
DOI
10.1186/1755-8794-6-S2-S10
PMID
23819832
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Physical Medicine & Rehabilitation
Journal Papers > School of Medicine / Graduate School of Medicine > Plastic & Reconstructive Surgery
Journal Papers > School of Medicine / Graduate School of Medicine > Pathology
Journal Papers > School of Medicine / Graduate School of Medicine > Brain Science
Journal Papers > School of Medicine / Graduate School of Medicine > Radiology
Journal Papers > School of Medicine / Graduate School of Medicine > Surgery
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Informatics
AJOU Authors
임, 신영박, 명철이, 일재김, 장희이, 명애곽, 규성이, 정훈소, 의영박, 래웅이, 기영
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