دورية أكاديمية
أعرض في EDS

Down syndrome and DYRK1A overexpression: relationships and future therapeutic directions.

التفاصيل البيبلوغرافية
العنوان: Down syndrome and DYRK1A overexpression: relationships and future therapeutic directions.
المؤلفون: Murphy AJ; Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Perth, WA, Australia.; Perron Institute for Neurological and Translational Science, Centre for Neuromuscular and Neurological Disorders, The University of Western Australia, Perth, WA, Australia., Wilton SD; Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Perth, WA, Australia.; Perron Institute for Neurological and Translational Science, Centre for Neuromuscular and Neurological Disorders, The University of Western Australia, Perth, WA, Australia., Aung-Htut MT; Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Perth, WA, Australia.; Perron Institute for Neurological and Translational Science, Centre for Neuromuscular and Neurological Disorders, The University of Western Australia, Perth, WA, Australia., McIntosh CS; Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Perth, WA, Australia.; Perron Institute for Neurological and Translational Science, Centre for Neuromuscular and Neurological Disorders, The University of Western Australia, Perth, WA, Australia.
المصدر: Frontiers in molecular neuroscience [Front Mol Neurosci] 2024 Jul 24; Vol. 17, pp. 1391564. Date of Electronic Publication: 2024 Jul 24 (Print Publication: 2024).
نوع المنشور: Journal Article; Review
اللغة: English
بيانات الدورية: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101477914 Publication Model: eCollection Cited Medium: Print ISSN: 1662-5099 (Print) Linking ISSN: 16625099 NLM ISO Abbreviation: Front Mol Neurosci Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: Lausanne, Switzerland : Frontiers Research Foundation, 2008-
مستخلص: Down syndrome is a genetic-based disorder that results from the triplication of chromosome 21, leading to an overexpression of many triplicated genes, including the gene encoding Dual-Specificity Tyrosine Phosphorylation-Regulated Kinase 1A (DYRK1A). This protein has been observed to regulate numerous cellular processes, including cell proliferation, cell functioning, differentiation, and apoptosis. Consequently, an overexpression of DYRK1A has been reported to result in cognitive impairment, a key phenotype of individuals with Down syndrome. Therefore, downregulating DYRK1A has been explored as a potential therapeutic strategy for Down syndrome, with promising results observed from in vivo mouse models and human clinical trials that administered epigallocatechin gallate. Current DYRK1A inhibitors target the protein function directly, which tends to exhibit low specificity and selectivity, making them unfeasible for clinical or research purposes. On the other hand, antisense oligonucleotides (ASOs) offer a more selective therapeutic strategy to downregulate DYRK1A expression at the gene transcript level. Advances in ASO research have led to the discovery of numerous chemical modifications that increase ASO potency, specificity, and stability. Recently, several ASOs have been approved by the U.S. Food and Drug Administration to address neuromuscular and neurological conditions, laying the foundation for future ASO therapeutics. The limitations of ASOs, including their high production cost and difficulty delivering to target tissues can be overcome by further advances in ASO design. DYRK1A targeted ASOs could be a viable therapeutic approach to improve the quality of life for individuals with Down syndrome and their families.
Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
(Copyright © 2024 Murphy, Wilton, Aung-Htut and McIntosh.)
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فهرسة مساهمة: Keywords: DSCR; DYRK1A; antisense oligonucleotide; down syndrome; exon skipping; intellectual disability
تواريخ الأحداث: Date Created: 20240808 Latest Revision: 20240809
رمز التحديث: 20240809
مُعرف محوري في PubMed: PMC11303307
DOI: 10.3389/fnmol.2024.1391564
PMID: 39114642
قاعدة البيانات: MEDLINE
الوصف
تدمد:1662-5099
DOI:10.3389/fnmol.2024.1391564