RT Journal Article
T1 Skipped BSCL2 Transcript in Celia’s Encephalopathy (PELD): New Insights on Fatty Acids Involvement, Senescence and Adipogenesis
A1 Sánchez Iglesias, Sofía
A1 Unruh-Pinheiro, Alexander
A1 Guillín Amarelle, Cristina
A1 González-Méndez, Blanca
A1 Ruiz Riquelme, Alejandro Iván
A1 Rodríguez Cañete, Blanca Leticia
A1 Rodríguez-García, Silvia
A1 Guillén Navarro, Encarnación
A1 Domingo Jiménez, María Rosario
A1 Araujo-Vilar, David
AB ObjectivePELD (Progressive Encephalopathy with or without Lipodystrophy or Celia’s Encephalopathy) is a fatal and rare neurodegenerative syndrome associated with the BSCL2 mutation c.985C>T, that results in an aberrant transcript without the exon 7 (Celia seipin). The aim of this study was to evaluate both the process of cellular senescence and the effect of unsaturated fatty acids on preadipocytes from a homozygous c.985C>T patient. Also, the role of aberrant seipin isoform on adipogenesis was studied in adipose-derived human mesenchymal stem cells.Material and methodsCellular senescence was evaluated using β-galactosidase staining of preadipocytes obtained from a homozygous c.985C>T patient. Moreover, these cells were cultured during 24 hours with Intralipid, a soybean oil-based commercial lipid emulsion. The expression of the different BSCL2 transcripts was measured by qPCR. Adipose-derived human mesenchymal stem cells were differentiated to a fat lineage using StemPRO adipogenesis kit, and the expression of BSCL2 transcripts and several adipogenesis-related genes was measured by qPCR.Resultsthe treatment of preadipocytes with unsaturated fatty acids significantly reduced the expression of the BSCL2 transcript without exon 7 by 34 to 63%. On the other hand, at least in preadipocytes, this mutation does not disturb cellular senescence rate. Finally, during adipocyte differentiation of adipose-derived human mesenchymal stem cells, the expression of adipogenic genes (PPARG, LPIN1, and LPL) increased significantly over 14 days, and noteworthy is that the BSCL2 transcript without exon 7 was differentially expressed by 332 to 723% when compared to day 0, suggesting an underlying role in adipogenesis.Conclusionsour results suggest that Celia seipin is probably playing an underestimated role in adipocyte maturation, but not in senescence, and its expression can be modified by exogenous factors as fatty acids
PB PLOS
YR 2016
FD 2016-07-08
LK http://hdl.handle.net/10347/15971
UL http://hdl.handle.net/10347/15971
LA eng
NO Sánchez-Iglesias S, Unruh-Pinheiro A, Guillín-Amarelle C, González-Méndez B, Ruiz-Riquelme A, Rodríguez-Cañete BL, et al. (2016) Skipped BSCL2 Transcript in Celia’s Encephalopathy (PELD): New Insights on Fatty Acids Involvement, Senescence and Adipogenesis. PLoS ONE 11(7): e0158874. https://doi.org/10.1371/journal.pone.0158874
NO This work was supported by the Instituto de Salud Carlos III and the European Regional Development Fund, FEDER (grants number PI10/02873 and PI13/00314, http://www.isciii.es/), ISCIII/PI13/00314/Cofinanciado FEDER and by the Consellería de Industria, Xunta de Galicia (grant number 10PXIB208013PR, http://www.xunta.es/). SRG was awarded a Research Fellowship, granted by the Asociación Española de Familiares y Afectados de Lipodistrofias (AELIP, http://www.aelip.org/). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript
DS Minerva
RD 25 abr 2026