The FSHD jigsaw: are we placing the tiles in the right position?
| Autor: | Salsi V; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena., Vattemi GNA; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy., Tupler RG; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena.; Department of Molecular Cell and Cancer Biology.; Li Weibo Institute for Rare Diseases Research at the University of Massachusetts Medical School, Worcester, USA. |
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| Jazyk: | angličtina |
| Zdroj: | Current opinion in neurology [Curr Opin Neurol] 2023 Oct 01; Vol. 36 (5), pp. 455-463. Date of Electronic Publication: 2023 Jun 14. |
| DOI: | 10.1097/WCO.0000000000001176 |
| Abstrakt: | Purpose of Review: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common myopathies, involving over 870,000 people worldwide and over 20 FSHD national registries. Our purpose was to summarize the main objectives of the scientific community on this topic and the moving trajectories of research from the past to the present. Recent Findings: To date, research is mainly oriented toward deciphering the molecular and pathogenetic basis of the disease by investigating DUX4-mediated muscle alterations. Accordingly, FSHD drug development has been escalating in the last years in an attempt to silence DUX4 or to block its downstream effectors. Breakthroughs in the field include the awareness that new biomarkers and outcome measures are required for tracking disease progression and patient stratification. The need to develop personalized therapeutic strategies is also crucial according to the phenotypic variability observed in FSHD subjects. Summary: We analysed 121 literature reports published between 2021 and 2023 to assess the most recent advances in FSHD clinical and molecular research. (Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc.) |
| Databáze: | MEDLINE |
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