Collagen VI Related Muscular Dystrophy

Abstract

<p><a href="https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/collagen-vi" title="Learn more about Collagen VI from ScienceDirect's AI-generated Topic Pages">Collagen VI</a>, encoded by the COL6A1, <a href="https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/col6a2" title="Learn more about COL6A2 from ScienceDirect's AI-generated Topic Pages">COL6A2</a>, and <a href="https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/col6a3" title="Learn more about COL6A3 from ScienceDirect's AI-generated Topic Pages">COL6A3</a> genes, is an essential protein for skeletal muscle, tendons, skin, and blood vessels. Mutations in these genes can lead to Collagen VI-related muscle diseases (COL6-related MD), including Ullrich congenital muscular dystrophy (UCMD), Bethlem myopathy (BM), intermediate phenotypes, and myosclerosis. COL6-related MD is emerging as one of the most common congenital muscular dystrophies. Diagnosis involves a combination of clinical assessments, <a href="https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/genetics" title="Learn more about genetic from ScienceDirect's AI-generated Topic Pages">genetic</a> studies, muscle biopsies, and MRI evaluations. This chapter discusses the prevalence of COL6-related MD, provides updated features of each phenotype, and explains how maximum motor milestones can help predict the phenotypes. Genetic insights at the molecular level reveal how mutations disrupt collagen VI assembly, leading to abnormalities in muscle and connective tissue. In certain cases, <a href="https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/gene-expression-profiling" title="Learn more about transcriptomic analysis from ScienceDirect's AI-generated Topic Pages">transcriptomic analysis</a> can assist in diagnosing these diseases. Furthermore, the chapter explores therapeutic advancements with promising results from <a href="https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/preclinical-study" title="Learn more about preclinical studies from ScienceDirect's AI-generated Topic Pages">preclinical studies</a> on gene editing and cell therapy. These approaches aim to reduce dominant negative mutant transcripts and restore collagen VI production to improve muscle function. Although these therapies show great potential, further research is required to refine these methods and evaluate their long-term efficacy and safety, paving the way for application in <a href="https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/clinical-trial" title="Learn more about clinical trials from ScienceDirect's AI-generated Topic Pages">clinical trials</a>.<br></p>