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This article is part of the supplement: Selected articles from the Second Annual Translational Bioinformatics Conference (TBC 2012)

Open Access Research

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

Shin-Young Yim1, Dukyong Yoon2, Myong Chul Park3, Il Jae Lee3, Jang-Hee Kim4, Myung Ae Lee5, Kyu-Sung Kwack6, Jan-Dee Lee7, Jeong-Hun Lee8, Euy-Young Soh8, Young-In Na9, Rae Woong Park2, KiYoung Lee2* and Jae-Bum Jun9*

Author Affiliations

1 The Center for Torticollis, Department of Physical Medicine and Rehabilitation, Ajou University School of Medicine, Suwon, Republic of Korea

2 Department of Biomedical Informatics, Ajou University School of Medicine, Suwon, Republic of Korea

3 Department of Plastic and Reconstructive Surgery, Ajou University School of Medicine, Suwon, Republic of Korea

4 Department of Pathology, Ajou University School of Medicine, Suwon, Republic of Korea

5 Brain Disease Research Center, Ajou University School of Medicine, Suwon, Republic of Korea

6 Department of Radiology, Ajou University School of Medicine, Suwon, Republic of Korea

7 Department of Surgery, Yonsei University College of Medicine, Seoul, Republic of Korea

8 Department of Surgery, Ajou University School of Medicine, Suwon, Republic of Korea

9 Department of Rheumatology, The Hospital for Rheumatic Diseases, Hanyang University College of Medicine, Seoul, Republic of Korea

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BMC Medical Genomics 2013, 6(Suppl 2):S10  doi:10.1186/1755-8794-6-S2-S10

Published: 7 May 2013

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 imunohistochemical 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.