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Role of Seipin in Human Diseases and Experimental Animal Models
Seipin, a protein encoded by the Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) gene, is famous for its key role in the biogenesis of lipid droplets and type 2 congenital generalised lipodystrophy (CGL2). BSCL2 gene mutations result in genetic diseases including CGL2, progressive encephal...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9221541/ https://www.ncbi.nlm.nih.gov/pubmed/35740965 http://dx.doi.org/10.3390/biom12060840 |
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author | Li, Yuying Yang, Xinmin Peng, Linrui Xia, Qing Zhang, Yuwei Huang, Wei Liu, Tingting Jia, Da |
author_facet | Li, Yuying Yang, Xinmin Peng, Linrui Xia, Qing Zhang, Yuwei Huang, Wei Liu, Tingting Jia, Da |
author_sort | Li, Yuying |
collection | PubMed |
description | Seipin, a protein encoded by the Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) gene, is famous for its key role in the biogenesis of lipid droplets and type 2 congenital generalised lipodystrophy (CGL2). BSCL2 gene mutations result in genetic diseases including CGL2, progressive encephalopathy with or without lipodystrophy (also called Celia’s encephalopathy), and BSCL2-associated motor neuron diseases. Abnormal expression of seipin has also been found in hepatic steatosis, neurodegenerative diseases, glioblastoma stroke, cardiac hypertrophy, and other diseases. In the current study, we comprehensively summarise phenotypes, underlying mechanisms, and treatment of human diseases caused by BSCL2 gene mutations, paralleled by animal studies including systemic or specific Bscl2 gene knockout, or Bscl2 gene overexpression. In various animal models representing diseases that are not related to Bscl2 mutations, differential expression patterns and functional roles of seipin are also described. Furthermore, we highlight the potential therapeutic approaches by targeting seipin or its upstream and downstream signalling pathways. Taken together, restoring adipose tissue function and targeting seipin-related pathways are effective strategies for CGL2 treatment. Meanwhile, seipin-related pathways are also considered to have potential therapeutic value in diseases that are not caused by BSCL2 gene mutations. |
format | Online Article Text |
id | pubmed-9221541 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-92215412022-06-24 Role of Seipin in Human Diseases and Experimental Animal Models Li, Yuying Yang, Xinmin Peng, Linrui Xia, Qing Zhang, Yuwei Huang, Wei Liu, Tingting Jia, Da Biomolecules Review Seipin, a protein encoded by the Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) gene, is famous for its key role in the biogenesis of lipid droplets and type 2 congenital generalised lipodystrophy (CGL2). BSCL2 gene mutations result in genetic diseases including CGL2, progressive encephalopathy with or without lipodystrophy (also called Celia’s encephalopathy), and BSCL2-associated motor neuron diseases. Abnormal expression of seipin has also been found in hepatic steatosis, neurodegenerative diseases, glioblastoma stroke, cardiac hypertrophy, and other diseases. In the current study, we comprehensively summarise phenotypes, underlying mechanisms, and treatment of human diseases caused by BSCL2 gene mutations, paralleled by animal studies including systemic or specific Bscl2 gene knockout, or Bscl2 gene overexpression. In various animal models representing diseases that are not related to Bscl2 mutations, differential expression patterns and functional roles of seipin are also described. Furthermore, we highlight the potential therapeutic approaches by targeting seipin or its upstream and downstream signalling pathways. Taken together, restoring adipose tissue function and targeting seipin-related pathways are effective strategies for CGL2 treatment. Meanwhile, seipin-related pathways are also considered to have potential therapeutic value in diseases that are not caused by BSCL2 gene mutations. MDPI 2022-06-17 /pmc/articles/PMC9221541/ /pubmed/35740965 http://dx.doi.org/10.3390/biom12060840 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/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/). |
spellingShingle | Review Li, Yuying Yang, Xinmin Peng, Linrui Xia, Qing Zhang, Yuwei Huang, Wei Liu, Tingting Jia, Da Role of Seipin in Human Diseases and Experimental Animal Models |
title | Role of Seipin in Human Diseases and Experimental Animal Models |
title_full | Role of Seipin in Human Diseases and Experimental Animal Models |
title_fullStr | Role of Seipin in Human Diseases and Experimental Animal Models |
title_full_unstemmed | Role of Seipin in Human Diseases and Experimental Animal Models |
title_short | Role of Seipin in Human Diseases and Experimental Animal Models |
title_sort | role of seipin in human diseases and experimental animal models |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9221541/ https://www.ncbi.nlm.nih.gov/pubmed/35740965 http://dx.doi.org/10.3390/biom12060840 |
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