Dataset Information

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

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.

SUBMITTER: Yim SY

PROVIDER: S-EPMC3654872 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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Publications

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

Yim Shin-Young SY Yoon Dukyong D Park Myong Chul MC Lee Il Jae IJ Kim Jang-Hee JH Lee Myung Ae MA Kwack Kyu-Sung KS Lee Jan-Dee JD Lee Jeong-Hun JH Soh Euy-Young EY Na Young-In YI Park Rae Woong RW Lee KiYoung K Jun Jae-Bum JB

BMC medical genomics 20130507

<h4>Background</h4>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.<h4>Results</h4>Twenty-eight sternocleidomastoid muscles (SCMs) from 23 subjects with CMT and 5 SCMs without CMT ...[more]

PMID: 23819832

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Dataset Information

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

Background

Results

Conclusions

Publications

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

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