{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T09:02:58Z","timestamp":1792141378559,"version":"4.4.0"},"reference-count":80,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2023,8,17]],"date-time":"2023-08-17T00:00:00Z","timestamp":1692230400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"H Jean McDiarmaid Scholarship"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy\u2019s disease, is a debilitating neuromuscular disease characterized by progressive muscular weakness and neuronal degeneration, affecting 1\u20132 individuals per 100,000 globally. While SBMA is relatively rare, recent studies have shown a significantly higher prevalence of the disease among the indigenous population of Western Canada compared to the general population. The disease is caused by a pathogenic expansion of polyglutamine residues in the androgen receptor protein, which acts as a key transcriptional regulator for numerous genes. SBMA has no cure, and current treatments are primarily supportive and focused on symptom management. Recently, a form of precision medicine known as antisense therapy has gained traction as a promising therapeutic option for numerous neuromuscular diseases. Antisense therapy uses small synthetic oligonucleotides to confer therapeutic benefit by acting on pathogenic mRNA molecules, serving to either degrade pathogenic mRNA transcripts or helping to modulate splicing. Recent studies have explored the suitability of antisense therapy for the treatment of SBMA, primarily focused on gene therapy and antisense-mediated mRNA knockdown approaches. Advancements in understanding the pathogenesis of SBMA and the development of targeted therapies offer hope for improved quality of life for individuals affected by this debilitating condition. Continued research is essential to optimize these genetic approaches, ensuring their safety and efficacy.<\/jats:p>","DOI":"10.3390\/genes14081634","type":"journal-article","created":{"date-parts":[[2023,8,17]],"date-time":"2023-08-17T10:15:48Z","timestamp":1692267348000},"page":"1634","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Advancing Epidemiology and Genetic Approaches for the Treatment of Spinal and Bulbar Muscular Atrophy: Focus on Prevalence in the Indigenous Population of Western Canada"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2696-265X","authenticated-orcid":false,"given":"Harry","family":"Wilton-Clark","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 2R3, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9129-5929","authenticated-orcid":false,"given":"Ammar","family":"Al-aghbari","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, Faculty of Science, University of Alberta, Edmonton, AB T6G 2R3, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Immunology, Department of Pharmacology and Toxicology, Faculty of Arts and Science, University of Toronto, Toronto, ON M5S 1A1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6672-6742","authenticated-orcid":false,"given":"Toshifumi","family":"Yokota","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 2R3, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,8,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1212\/WNL.18.7.671","article-title":"Progressive Proximal Spinal and Bulbar Muscular Atrophy of Late Onset","volume":"18","author":"Kennedy","year":"1968","journal-title":"Neurology"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1007\/s00441-012-1377-9","article-title":"Pathogenesis and Molecular Targeted Therapy of Spinal and Bulbar Muscular Atrophy (SBMA)","volume":"349","author":"Banno","year":"2012","journal-title":"Cell Tissue Res."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1446","DOI":"10.1093\/brain\/awl096","article-title":"Natural History of Spinal and Bulbar Muscular Atrophy (SBMA): A Study of 223 Japanese Patients","volume":"129","author":"Atsuta","year":"2006","journal-title":"Brain"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1007\/s00401-013-1122-9","article-title":"Androgen-Dependent Impairment of Myogenesis in Spinal and Bulbar Muscular Atrophy","volume":"126","author":"Malena","year":"2013","journal-title":"Acta Neuropathol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/j.jns.2007.08.012","article-title":"Spinal and Bulbar Muscular Atrophy: Skeletal Muscle Pathology in Male Patients and Heterozygous Females","volume":"264","author":"Polo","year":"2008","journal-title":"J. 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