Min Li1, Yongli Han1, Shuying Wang1, Yajie Yu1, Mengling Liu1, Yingfeng Xia1, Ze'an Weng1, Ling Zhou1, Xiaoyan He1, Jun Wang1, Zhi He2, Liang Yu3, Yunhong Zha4. 1. Institute of Neural Regeneration and Repair, Department of Neurology, The First People's Hospital of Yichang, China Three Gorges University, Yichang, 443000, China. 2. Medical School of China Three Gorges University, Yichang, 443002, China. 3. School of Computer Science and Technology, Xidian University, Xi'an, China. lyu@xidian.edu.cn. 4. Institute of Neural Regeneration and Repair, Department of Neurology, The First People's Hospital of Yichang, China Three Gorges University, Yichang, 443000, China. yzha7808@ctgu.edu.cn.
Abstract
INTRODUCTION: Becker muscular dystrophy (BMD) is a genetic and progressive neuromuscular disease caused by mutations in the dystrophin gene with no available cure. A case report and comprehensive review of BMD cases aim to provide important clues for early diagnosis and implications for clinical practice. Genes and pathways identified from microarray data of muscle samples from patients with BMD help uncover the potential mechanism and provide novel therapeutic targets for dystrophin-deficient muscular dystrophies. METHODS: We describe a BMD family with a 10-year-old boy as the proband and reviewed BMD cases from PubMed. Datasets from the Gene Expression Omnibus database were downloaded and integrated with the online software. RESULTS: The systematic review revealed the clinical manifestations and mutation points of the dystrophin gene. Gene ontology analysis showed that extracellular matrix organization and extracellular structure organization with enrichment of upregulated genes coexist in three datasets. We present the first report of TUBA1A involvement in the development of BMD/Duchenne muscular dystrophy (DMD). DISCUSSION: This study provides important implications for clinical practice, uncovering the potential mechanism of the progress of BMD/DMD, and provided new therapeutic targets.
INTRODUCTION: Becker muscular dystrophy (BMD) is a genetic and progressive neuromuscular disease caused by mutations in the dystrophin gene with no available cure. A case report and comprehensive review of BMD cases aim to provide important clues for early diagnosis and implications for clinical practice. Genes and pathways identified from microarray data of muscle samples from patients with BMD help uncover the potential mechanism and provide novel therapeutic targets for dystrophin-deficient muscular dystrophies. METHODS: We describe a BMD family with a 10-year-old boy as the proband and reviewed BMD cases from PubMed. Datasets from the Gene Expression Omnibus database were downloaded and integrated with the online software. RESULTS: The systematic review revealed the clinical manifestations and mutation points of the dystrophin gene. Gene ontology analysis showed that extracellular matrix organization and extracellular structure organization with enrichment of upregulated genes coexist in three datasets. We present the first report of TUBA1A involvement in the development of BMD/Duchenne muscular dystrophy (DMD). DISCUSSION: This study provides important implications for clinical practice, uncovering the potential mechanism of the progress of BMD/DMD, and provided new therapeutic targets.
Authors: Gyula Acsadi; Steven A Moore; Angélique Chéron; Olivier Delalande; Lindsey Bennett; William Kupsky; Mohammad El-Baba; Elisabeth Le Rumeur; Jean-François Hubert Journal: J Biol Chem Date: 2012-03-27 Impact factor: 5.157
Authors: Rudaina Banihani; Berivan Baskin; William Halliday; Jeff Kobayashi; Anne Kawamura; Laura McAdam; Peter N Ray; Grace Yoon Journal: J Dev Behav Pediatr Date: 2016-04 Impact factor: 2.225