Celia's Encephalopathy ( BSCL2 -Gene-Related): Current Understanding

Seipin, encoded by the gene, is a protein that in humans is expressed mainly in the central nervous system. Uniquely, certain variants in can cause both generalized congenital lipodystrophy type 2, upper and/or lower motor neuron diseases, or progressive encephalopathy, with a poor prognosis during...

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Bibliographic Details
Published in:	Journal of clinical medicine Vol. 10; no. 7; p. 1435
Main Authors:	Sánchez-Iglesias, Sofía, Fernández-Pombo, Antía, Cobelo-Gómez, Silvia, Hermida-Ameijeiras, Álvaro, Alarcón-Martínez, Helena, Domingo-Jiménez, Rosario, Ruíz Riquelme, Alejandro Iván, Requena, Jesús R, Araújo-Vilar, David
Format:	Journal Article
Language:	English
Published:	Switzerland MDPI AG 01-04-2021 MDPI
Subjects:	Amino acids Clinical medicine Collaboration Lipids Microscopy Proteins Review Signal transduction BSCL2 seipin PELD neurodegeneration Celia’s encephalopathy congenital generalized lipodystrophy
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Summary:	Seipin, encoded by the gene, is a protein that in humans is expressed mainly in the central nervous system. Uniquely, certain variants in 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 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.
Bibliography:	ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-3 content type line 23 ObjectType-Review-1 These authors contributed equally to this manuscript.
ISSN:	2077-0383 2077-0383
DOI:	10.3390/jcm10071435