title: Gene expression profiling of Duchenne muscular dystrophy reveals characteristics along disease progression.
abstract: Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy with no cure currently available. In this study, using two microarray data sets obtained from the Gene Expression Omnibus database, we conducted a dysfunctional pathway-enrichment analysis and investigated deregulated genes that are specific to different phases of the disease in order to determine pathogenic characteristics in the progression of DMD. We identified 41 and 33 dysfunctional pathways that were enriched with differentially expressed genes in presymptomatic patients and in symptomatic patients, respectively. Over 70% of pathways were shared between both phases and many of them involved the inflammatory process, suggesting that inflammatory cascades were induced soon after the birth of the patients. Further investigation showed that presymptomatic patients performed better with respect to muscle regeneration and cardiac muscle calcium homeostasis maintenance. Neuronal nitric oxide synthase, dihydropyridine receptors, sarcoplasmic/endoplasmic reticulum calcium ATPase, and phospholamban may serve as potential targets for further molecular diagnostic tests. Our results may provide a better understanding for the treatment of DMD.
authors.affiliation: Clinical Laboratory, Children's Hospital, Xuzhou, Jiangsu Province, China tlj1168@163.com.
authors.forename: L J
authors.initials: LJ
authors.lastname: Tian
authors.affiliation: Clinical Laboratory, Children's Hospital, Xuzhou, Jiangsu Province, China.
authors.forename: J H
authors.initials: JH
authors.lastname: Cao
authors.affiliation: Clinical Laboratory, Children's Hospital, Xuzhou, Jiangsu Province, China.
authors.forename: X Q
authors.initials: XQ
authors.lastname: Deng
authors.affiliation: Clinical Laboratory, Children's Hospital, Xuzhou, Jiangsu Province, China.
authors.forename: C L
authors.initials: CL
authors.lastname: Zhang
authors.affiliation: Clinical Laboratory, Children's Hospital, Xuzhou, Jiangsu Province, China.
authors.forename: T
authors.initials: T
authors.lastname: Qian
authors.affiliation: Clinical Laboratory, Children's Hospital, Xuzhou, Jiangsu Province, China.
authors.forename: X X
authors.initials: XX
authors.lastname: Song
authors.affiliation: Clinical Laboratory, Children's Hospital, Xuzhou, Jiangsu Province, China.
authors.forename: B S
authors.initials: BS
authors.lastname: Huang
mesh_terms: D019295:Computational Biology / Q000379:methods; D030561:Databases, Nucleic Acid; D018450:Disease Progression; D020869:Gene Expression Profiling; D005786:Gene Expression Regulation; D053263:Gene Regulatory Networks; D006801:Humans; D053858:Metabolic Networks and Pathways; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics* / Q000378:metabolism; D015398:Signal Transduction; D059467:Transcriptome