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.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9981387 | PMC |
| http://dx.doi.org/10.1097/MD.0000000000033122 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Segregation of the Variant (c.1817-3C>G) in a Consanguineous Saudi Family with Bethlem Myopathy.
Genes (Basel)
October 2024
Department of Pathology, College of Medicine, Qassim University, Buraidah 51452, Saudi Arabia.
Bethlem myopathy is a rare genetic disease caused by a variant mapped to 21q22, which harbors the collagen type VI alpha 2 chain and collagen type VI alpha 1 chain ( genes, and 2q37, which harbors the collagen type VI alpha 3 chain () gene. Disease onset can occur at any age, and the symptoms are related to those of muscular dystrophy. Since Bethlem myopathy is a rare disease, no previous studies have been conducted in Arab countries, including Saudi Arabia.
View Article and Find Full Text PDFA Novel Splice Site Variant in COL6A1 Causes Ullrich Congenital Muscular Dystrophy in a Consanguineous Malian Family.
Mol Genet Genomic Med
November 2024
Faculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako, Mali.
Background: Congenital muscular dystrophies (CMDs) are diverse early-onset conditions affecting skeletal muscle and connective tissue. This group includes collagen VI-related dystrophies such as Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM), caused by mutations in the COL6A1, COL6A2 and COL6A3 genes. We report a consanguineous Malian family with three siblings affected by UCMD due to a novel homozygous splice site variant in the COL6A1 gene.
View Article and Find Full Text PDFClinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy.
J Mol Neurosci
October 2024
Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt.
Collagen VI-related dystrophies (COL6-RD) display a wide spectrum of disease severity and genetic variability ranging from mild Bethlem myopathy (BM) to severe Ullrich congenital muscular dystrophy (UCMD) and the intermediate severities in between with dual modes of inheritance, dominant and recessive. In the current study, next-generation sequencing demonstrated potential variants in the genes coding for the three alpha chains of collagen VI (COL6A1, COL6A2, or COL6A3) in a cohort of Egyptian patients with progressive muscle weakness (n = 23). Based on the age of disease onset and the patient clinical course, subjects were diagnosed as follows: 12 with UCMD, 8 with BM, and 3 with intermediate disease form.
View Article and Find Full Text PDFBethlem myopathy: A novel homozygous variant of c.385C>T (p.Arg129Cys) in the COL6A2 gene.
Clin Case Rep
August 2024
Department of Medical Genetics, School of Medicine Iran University of Medical Sciences Tehran Iran.
Key Clinical Message: This case highlights the challenges in diagnosing Bethlem myopathy, the need for a high index of suspicion, and the importance of recognizing the diverse clinical presentations of this rare condition. Enhanced understanding can aid in early diagnosis and tailored management.
Abstract: Bethlem myopathy (BM), a rare collagen VI-related myopathy, is characterized by progressive muscle weakness and contractures, typically affecting the proximal muscles and joints.
Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy.
Mol Syndromol
August 2024
Departmant of Pediatric Neurology, Dokuz Eylül University, İzmir, Turkey.
Introduction: Mutations in collagen type IV-associated genes lead to Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM). gene mutations have rarely been reported in patients with UCMD- and BM-like disorders not involving mutations. UCMD-2 results from homozygous mutations in the gene on the long arm of chromosome 6.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!