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Transcriptome profiling of skeletal muscles from Korean patients with Bethlem myopathy

Authors
 Seung-Ah Lee  ;  Ji-Man Hong  ;  Jung Hwan Lee  ;  Young-Chul Choi  ;  Hyung Jun Park 
Citation
 MEDICINE, Vol.102(9) : e33122, 2023-03 
Journal Title
MEDICINE
ISSN
 0025-7974 
Issue Date
2023-03
MeSH
Gene Expression Profiling ; Humans ; Muscle, Skeletal* ; Muscular Dystrophies* / genetics ; Republic of Korea
Abstract
Bethlem myopathy is one of the collagens VI-related muscular dystrophies caused by mutations in the collagen VI genes. The study was designed to analyze the gene expression profiles in the skeletal muscle of patients with Bethlem myopathy. Six skeletal muscle samples from 3 patients with Bethlem myopathy and 3 control subjects were analyzed by RNA-sequencing. 187 transcripts were significantly differentially expressed, with 157 upregulated and 30 downregulated transcripts in the Bethlem group. Particularly, 1 (microRNA-133b) was considerably upregulated, and 4 long intergenic non-protein coding RNAs, LINC01854, MBNL1-AS1, LINC02609, and LOC728975, were significantly downregulated. We categorized differentially expressed gene using Gene Ontology and showed that Bethlem myopathy is strongly associated with the organization of extracellular matrix (ECM). Kyoto Encyclopedia of Genes and Genomes pathway enrichment reflected themes with significant enrichment of the ECM-receptor interaction (hsa04512), complement and coagulation cascades (hsa04610), and focal adhesion (hsa04510). We confirmed that Bethlem myopathy is strongly associated with the organization of ECM and the wound healing process. Our results demonstrate transcriptome profiling of Bethlem myopathy, and provide new insights into the path mechanism of Bethlem myopathy associated with non-protein coding RNAs. © 2023 Lippincott Williams and Wilkins. All rights reserved.
Files in This Item:
T202303010.pdf Download
DOI
10.1097/MD.0000000000033122
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Park, Hyung Jun(박형준)
Choi, Young Chul(최영철) ORCID logo https://orcid.org/0000-0001-5525-6861
Hong, Ji Man(홍지만) ORCID logo https://orcid.org/0000-0002-0696-8448
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/195366
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