Progeria-a Rare Genetic Condition with Accelerated Ageing Process
- PMID: 35445924
- DOI: 10.1007/s12010-021-03514-y
Progeria-a Rare Genetic Condition with Accelerated Ageing Process
Abstract
Progeria is a rare genetic disease which is characterised by accelerated ageing and reduced life span. There are differing types of progeria, but the classic type is Hutchinson-Gilford progeria syndrome (HGPS). Within a year of birth, people suffering from it start showing several features such as very low weight, scleroderma, osteoporosis and loss of hair. Their life expectancy is highly reduced and the average life span is around 14.6 years. Research is going on to understand the genetic and molecular level causes of this disease. Apart from that, several studies are also going on to discover therapeutic techniques and drugs to treat this disease but the success rate is very low. To gain a better understanding about research developments of progeria more experimental models, drugs and molecular technologies are under trial. Different important aspects and recent developments in epidemiology, genetic causes, symptoms, diagnosis and treatment options of progeria are discussed in this review.
Keywords: Clinical trials; Experimental models; Hutchinson-Gilford progeria syndrome (HGPS); Lamin A; Lonafarnib; Progerin; Translational.
© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.
References
-
- Piekarowicz, et al. (2019). Hutchinson-Gilford progeria syndrome—current status and prospects for gene therapy treatment. Cells, 8(2), 88. https://doi.org/10.3390/cells8020088 . - DOI - PubMed - PMC
-
- Harhouri, et al. (2018). An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome. Nucleus., 9(1), 246–257. https://doi.org/10.1080/19491034.2018.1460045 . - DOI - PubMed - PMC
-
- Santiago-Fernández, et al. (2019). Development of a CRISPR/Cas9-based therapy for Hutchinson-Gilford progeria syndrome. Nature Medicine, 25(3), 423–426. https://doi.org/10.1038/s41591-018-0338-6 . - DOI - PubMed - PMC
-
- Zhang, J., Lian, Q., Zhu, G., Zhou, F., Sui, L., Tan, C., Mutalif, R. A., Navasankari, R., Zhang, Y., Tse, H. F., Stewart, C. L., & Colman, A. (2011). A human iPSC model of Hutchinson-Gilford progeria reveals vascular smooth muscle and mesenchymal stem cell defects. Cell Stem Cell, 8, 31–45. - DOI - PubMed
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources