Hutchinson Gilford Progeria Syndrome (HGPS): Potential Treatments

Authors

  • Dias Rima Sutiono Indonesia International Institute for Life Sciences (i3L), Jakarta, Indonesia
  • Fransiska Adeline Indonesia International Institute for Life Sciences (i3L), Jakarta, Indonesia

DOI:

https://doi.org/10.55175/cdk.v50i9.727

Keywords:

FTI, HGPS, progeria, treatment

Abstract

The Hutchinson-Gilford Progeria syndrome (HGPS) is a rare genetic disease that causes an early accelerated aging in children; clinically characterized by manifestations affecting the skin, musculoskeletal system and blood vessels, also other features supporting aging processes. This disease affects 1 in 4 - 8 million newborns all over the world without any race and gender preferences. The clinical features of HGPS usually appear at the age of two and will be discovered through clinical diagnosis. It then will be followed by health problems like coronary atherosclerosis that can be life-threatening. The life-span is usually 14,6 years. This review will discuss some emerging potential treatment such as FTI (Farnesyltransferase inhibitors).

Sindrom Hutchinson-Gilford Progeria adalah penyakit genetik langka berupa penuaan lebih cepat pada usia anak-anak ditandai beberapa manifestasi di antaranya kulit, sistem muskuloskeletal dan pembuluh darah, serta hal lain sesuai proses penuaan. Penyakit ini terjadi pada 1 di antara 4-8 juta bayi baru lahir di seluruh dunia tanpa preferensi ras dan gender. Gambaran klinis HGPS biasanya muncul di usia dua tahun, diikuti masalah kesehatan seperti aterosklerosis pembuluh darah koroner yang dapat mengancam jiwa. Rentang hidup pasien HGPS biasanya 14,6 tahun. Ulasan ini mengenai beberapa pengobatan potensial seperti FTI (inhibitor Farnesyltransferase).

Downloads

Download data is not yet available.

References

Hutchinson-Gilford progeria syndrome. Genetics Home Reference (GHR) [Internet]. 2007. Available from: http://ghr.nlm.nih.gov/condition/hutchinson-gilfordprogeria-syndrome. Accessed 10/28/2015

Gordon LB, Brown WT, Collins FS. Hutchinson-Gilford progeria syndrome [Internet]. 2015 January 8. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1121/

Swahari V, Nakamura A. Speeding up the clock: The past, present and future of progeria. Development, Growth & Differentiation 2016;58:116–30. doi: 10.1111/dgd.12251

Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {#176670} [Internet]. 2015. Available from: http://omim.org/entry/176670

Tsiligiri M, Fekos C, Theodoridou E, Lavdaniti M. An overview of Hutchinson Gilford progeria syndrome (HGPS). Br J Med Medical Res. 2015;5(12):1527–33. doi:10.9734/BJMMR/2015/13452

Progeria Research Foundation. The progeria handbook: A guide for families & health care providers of children with progeria. Includes genetic testing guidelines [Internet]. Available from: http://www.progeriaresearch.org/assets/files/PRFhandbook_0410.pdf

Folkart BA. Oldest survivor of rare aging disease: Meg Casey, 29, dies after an eloquent struggle - latimes. Los Angeles Times [Internet]. 1985. Available from http://articles.latimes.com/1985-05-30/news/mn-4953_1_rare-aging-disease

Mala AK. Kesehatan – Usia bocah tubuh manula. Gatra 1st ed [Internet]. 2003. Available from: http://arsip.gatra.com/2003-12-26/artikel.php?id=32235

Progeria Research Foundation | In Memory Of. (n.d.) [Internet]. 2016 March 23. Available from: http://www.progeriaresearch.org/in-memory-of.html

Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 2003;423(6937):293–8. doi:10.1038/nature01629

Pollex RL, Hegele RA. Hutchinson-Gilford progeria syndrome. Clin Genetics 2004;66(5):375–81. doi:10.1111/j.1399-0004.2004.00315.x

Gordon LB. Update: Farnesyltransferase inhibitors (FTIs) as potential drug therapy for children with progeria: Recent research findings and frequently asked questions. The Progeria Res Foundation; 2006 .p.1–6. doi:10.1089/109454502763485430

Gordon LB, Kleinman ME, Miller DT, Neuberg DS, Giobbie-Hurder A, Gerhard-Herman M, et al. Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A. 2012;109(41):16666-71.

Gordon LB, Massaro J, D’Agostino RB, Campbell SE, Brazier J, Brown W T. Progeria clinical trials collaborative. Impact of farnesylation inhibitors on survival in Hutchinson-Gilford progeria syndrome. Circulation 2014;130(1):27–34.

Ullrich NJ, Kieran MW, Miller DT, Gordon LB, Cho YJ, Silvera VM, et al. Neurologic features of Hutchinson-Gilford progeria syndrome after lonafarnib treatment. Neurology.2013;81:427–30.

Cao K, Blair CD, Faddah DA, Kieckhaefer JE, Olive M, Erdos MR, et al. Progerin and telomere dysfunction collaborate to trigger cellular senescence in normal human fibroblasts. J Clin Invest. 2011;121(7):2833–44. http://doi.org/10.1172/JCI43578

Cenni V, Capanni C, Columbaro M, Ortolani M, D’Apice MR, Novelli G, et al. Autophagic degradation of farnesylatedprelamin A as a therapeutic approach to laminlinked progeria. Eur J Histochemistr 2011;55(4):36. http://doi.org/10.4081/ejh.2011.e36

Osorio FG, Navarro CL, Cadiñanos J, Ortolani M, D’Apice MR, Novelli G, et al. Splicing-directed therapy in a new mouse model of human accelerated aging. SciTransl Med. 2011;3:106ra107.

Liu B, Ghosh S, Yang X, Zheng H, Liu X, Wang Z, et al. Resveratrol rescues SIRT1-dependent adult stem cell decline and alleviates progeroid features in laminopathybased progeria. Cell Metab. 2012;16:738–50

Larrieu D, Britton S, Demir M, Rodriguez R, Jackson SP. Chemical inhibition of NAT10 corrects defects of laminopathic cells. Science 2014;344:527–32.

Xiong ZM, Choi JY, Wang K, Zhang H, Tariq Z, Wu D, et al. Methylene blue alleviates nuclear and mitochondrial abnormalities in progeria. Aging Cell 2015;15(2):279–90. doi:10.1111/acel.12434

Blondel S, Egesipe AL, Picardi P, Jaskowiak AL, Notarnicola M, Ragot J, et al. Drug screening on Hutchinson Gilford progeria pluripotent stem cells reveals aminopyrimidines as new modulators of farnesylation. Cell Death & Disease 2016;7:e2105. doi:10.1038/cddis.2015.374

Ibrahim MX, Sayin VI, Akula MK, Liu M, Fong LG, Young SG, et al. Targeting isoprenylcysteine methylation ameliorates disease in a mouse model of progeria. Science 2013;340(6138):1330–3. http://doi.org/10.1126/science.1238880

Paddock C. Antioxidant in broccoli “shows promise” as treatment for progeria - Medical News Today 2014 [Internet]. 2016 March 24. Available from: http://www.medicalnewstoday.com/articles/287375.php

Downloads

Published

03-09-2018

How to Cite

Sutiono, D. R., & Adeline, F. (2018). Hutchinson Gilford Progeria Syndrome (HGPS): Potential Treatments. Cermin Dunia Kedokteran, 45(9), 692–694. https://doi.org/10.55175/cdk.v50i9.727

Issue

Section

Articles