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

AbstractBACKGROUND:
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.
AuthorsShin-Young Yim, Dukyong Yoon, Myong Chul Park, Il Jae Lee, Jang-Hee Kim, Myung Ae Lee, Kyu-Sung Kwack, Jan-Dee Lee, Jeong-Hun Lee, Euy-Young Soh, Young-In Na, Rae Woong Park, KiYoung Lee, Jae-Bum Jun
JournalBMC medical genomics (BMC Med Genomics) Vol. 6 Suppl 2 Pg. S10 ( 2013) ISSN: 1755-8794 [Electronic] England
PMID23819832 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Biomarkers
  • RNA, Messenger
Topics
  • Adult
  • Biomarkers (metabolism)
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Female
  • Gene Expression Profiling
  • Gene Regulatory Networks
  • Humans
  • Immunoenzyme Techniques
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Oligonucleotide Array Sequence Analysis
  • Protein Interaction Maps
  • RNA, Messenger (genetics)
  • Real-Time Polymerase Chain Reaction
  • Reverse Transcriptase Polymerase Chain Reaction
  • Torticollis (congenital, genetics, metabolism, pathology)

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