Celia’s Encephalopathy (BSCL2-Gene-Related): Current Understanding
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Título: | Celia’s Encephalopathy (BSCL2-Gene-Related): Current Understanding |
Autor/a: | Sánchez Iglesias, Sofía Fernández Pombo, Antía Cobelo Gómez, Silvia Hermida Ameijeiras, Álvaro Alarcón Martínez, Helena Domingo Jiménez, María Rosario Ruiz Riquelme, Alejandro Iván Rodríguez Requena, Jesús Araújo Vilar, David |
Centro/Departamento: | Universidade de Santiago de Compostela. Centro de Investigación en Medicina Molecular e Enfermidades Crónicas Universidade de Santiago de Compostela. Departamento de Psiquiatría, Radioloxía, Saúde Pública, Enfermaría e Medicina |
Palabras chave: | Celia’s encephalopathy | PELD | Seipin | BSCL2 | Congenital generalized lipodystrophy | Neurodegeneration | |
Data: | 2021 |
Editor: | MDPI |
Cita bibliográfica: | J. Clin. Med. 2021, 10(7), 1435; https://doi.org/10.3390/jcm10071435 |
Resumo: | Seipin, encoded by the BSCL2 gene, is a protein that in humans is expressed mainly in the central nervous system. Uniquely, certain variants in BSCL2 can cause both generalized congenital lipodystrophy type 2, upper and/or lower motor neuron diseases, or progressive encephalopathy, with a poor prognosis during childhood. The latter, Celia’s encephalopathy, which may or may not be associated with generalized lipodystrophy, is caused by the c.985C >T variant. This cytosine to thymine transition creates a cryptic splicing zone that leads to intronization of exon 7, resulting in an aberrant form of seipin, Celia seipin. It has been proposed that the accumulation of this protein, both in the endoplasmic reticulum and in the nucleus of neurons, might be the pathogenetic mechanism of this neurodegenerative condition. In recent years, other variants in BSCL2 associated with generalized lipodystrophy and progressive epileptic encephalopathy have been reported. Interestingly, most of these variants could also lead to the loss of exon 7. In this review, we analyzed the molecular bases of Celia’s encephalopathy and its pathogenic mechanisms, the clinical features of the different variants, and a therapeutic approach in order to slow down the progression of this fatal neurological disorder |
Versión do editor: | https://doi.org/10.3390/jcm10071435 |
URI: | http://hdl.handle.net/10347/25269 |
DOI: | 10.3390/jcm10071435 |
E-ISSN: | 2077-0383 |
Dereitos: | © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/) Atribución 4.0 Internacional |
Coleccións
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- CIMUS-Artigos [249]
- PRSP-Artigos [373]
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