دورية أكاديمية
Trehalose Treatment in Zebrafish Model of Lafora Disease
| العنوان: | Trehalose Treatment in Zebrafish Model of Lafora Disease |
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| المؤلفون: | Stefania Della Vecchia, Asahi Ogi, Rosario Licitra, Francesca Abramo, Gabriele Nardi, Serena Mero, Silvia Landi, Roberta Battini, Federico Sicca, Gian Michele Ratto, Filippo Maria Santorelli, Maria Marchese |
| المصدر: | International Journal of Molecular Sciences, Vol 23, Iss 12, p 6874 (2022) |
| بيانات النشر: | MDPI AG, 2022. |
| سنة النشر: | 2022 |
| المجموعة: | LCC:Biology (General) LCC:Chemistry |
| مصطلحات موضوعية: | Lafora disease, progressive myoclonic epilepsies, neuroinflammation, autophagy, trehalose, Biology (General), QH301-705.5, Chemistry, QD1-999 |
| الوصف: | Mutations in the EPM2A gene encoding laforin cause Lafora disease (LD), a progressive myoclonic epilepsy characterized by drug-resistant seizures and progressive neurological impairment. To date, rodents are the only available models for studying LD; however, their use for drug screening is limited by regulatory restrictions and high breeding costs. To investigate the role of laforin loss of function in early neurodevelopment, and to screen for possible new compounds for treating the disorder, we developed a zebrafish model of LD. Our results showed the epm2a−/− zebrafish to be a faithful model of LD, exhibiting the main disease features, namely motor impairment and neuronal hyperexcitability with spontaneous seizures. The model also showed increased inflammatory response and apoptotic death, as well as an altered autophagy pathway that occurs early in development and likely contributes to the disease progression. Early administration of trehalose was found to be effective for rescuing motor impairment and neuronal hyperexcitability associated with seizures. Our study adds a new tool for investigating LD and might help to identify new treatment opportunities. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1422-0067 1661-6596 |
| Relation: | https://www.mdpi.com/1422-0067/23/12/6874; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067 |
| DOI: | 10.3390/ijms23126874 |
| URL الوصول: | https://doaj.org/article/171326dc5891449e8110fa63821aa84b |
| رقم الأكسشن: | edsdoj.171326dc5891449e8110fa63821aa84b |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 14220067 16616596 |
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| DOI: | 10.3390/ijms23126874 |