Celia's Encephalopathy (
| Autor: | David Araújo-Vilar, Sofía Sánchez-Iglesias, Jesús R. Requena, Silvia Cobelo-Gómez, Antía Fernández-Pombo, Alejandro Iván Ruíz Riquelme, Rosario Domingo-Jiménez, Álvaro Hermida-Ameijeiras, Alarcón-Martínez H |
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| Přispěvatelé: | 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 |
| Rok vydání: | 2021 |
| Předmět: |
PELD
congenital generalized lipodystrophy BSCL2 Celia’s encephalopathy Encephalopathy lcsh:Medicine Review Lower motor neuron Seipin Congenital generalized lipodystrophy 03 medical and health sciences Exon 0302 clinical medicine medicine ddc:610 Neurodegeneration 030304 developmental biology Genetics 0303 health sciences business.industry Generalized lipodystrophy lcsh:R neurodegeneration General Medicine medicine.disease seipin medicine.anatomical_structure business 030217 neurology & neurosurgery |
| Zdroj: | Journal of Clinical Medicine Journal of Clinical Medicine 10(7), 1435 (2021). doi:10.3390/jcm10071435 special issue: "Infrequent Lipodystrophies: Challenges in Pathogenesis, Diagnosis and Treatment" Minerva: Repositorio Institucional de la Universidad de Santiago de Compostela Universidad de Santiago de Compostela (USC) Journal of Clinical Medicine, Vol 10, Iss 1435, p 1435 (2021) Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela instname |
| ISSN: | 2077-0383 |
| DOI: | 10.3390/jcm10071435 |
| Popis: | 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 This work was supported by the Instituto de Salud Carlos III and the European Regional Development Fund, FEDER (grant numbers PI10/02873 and PI13/00314), by the Consellería de Industria, Xunta de Galicia (grant numbers 10PXIB208013PR, ED341b 2017/19 and ED431B 2020/37), and by Fundación Mutua Madrileña (Call 2015). S.S.I. was awarded a Research Fellowship, granted by the Asociación Española de Familiares y Afectados de Lipodistrofias (AELIP) SI |
| Databáze: | OpenAIRE |
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