Progeria

Progeria

progeria

Definition

  • Hutchinson–Gilford progeria syndrome (HGPS), simply known as progeria, is a genetic disorder in which symptoms resembling aspects of aging appears at very early stage. There is cure available as of now.

Epidemiology and burden of Progeria

Treatment for Progeria

  • Treatment of Progeria with Farnesylation inhibitors increases the survival by 1.6 years. During the median follow up of 5.3 years, 21 of 43 died who were not treated and only 5 of 43 patients dies who got the treatment (hazard ratio: 0.13, 95%CI: 0.04-0.37; p<0.001). (2014 Jul 1;130(1):27-34)
  • The study estimated that lonafarnib 115-150 mg/m2 for 24 to 29 months reduces the prevalence of stroke and TIA (Transient ischemic attack) and frequency of headaches in progeria. (Neurology. 2013 Jul 30; 81(5): 427–430)
  • Intake of growth hormone and nutritional therapy improves the growth velocity (GV), increased the level of growth factors, and decreased BMRs, however the effect to these therapies decreases over time. (1997 Aug;46(8):851-6)
  • The study concluded that metformin can be considered a promising therapeutic approach for life extension in HGPS. (Exp Dermatol.2017 Feb 13. doi: 10.1111/exd.13323)

Cause of Progeria

  • DNA methylation to have an impact on premature aging diseases like Hutchinson-Gilford Progeria (HGP) and Werner Syndrome (WS). (2013 Jan;8(1):28-33)
  • It is caused by a mutation in LMNA gene. This protein produces abnormal lamin A which makes cell nucleus unstable. The cellular instability leads to process of mature aging and progeria. (http://www.progeriaresearch.org)

Research scope in Progeria

  • Adiponectin and HDL cholesterol level decline is associated with atherosclerosis in Progeria and it offers new potential therapeutic targets for atherosclerosis in HGPS. (J Pediatr.2005 Mar;146(3):336-41)
  • DOT1L inhibition extends lifespan and ameliorates the accelerated ageing phenotype of progeroid mice, suggesting new targets of rejuvenation strategies for the treatment and prevention of progeria damages. (Nat Cell Biol.2015 Aug;17(8):1004-13)
  • Inhibition of MTORC1 by rapamycin extends lifespan in old mice. Further studies can help to ascertain such findings. (Rejuvenation Res.2011 Aug;14(4):437-41)
  • The study indicates that the progeria associated bone defects can be reversed by using treatments targeting aberrant progerin splicing give hope to patients who are affected by HGPS. (FASEB J.2015 Aug;29(8):3193-205)
  • Methylene blue alleviates nuclear and mitochondrial abnormalities in progeria and may be a promising therapeutic approach for HGPS in future. (Aging Cell.2016 Apr;15(2):279-90)

Systematic reviews

  • The epidemiology of premature aging and associated comorbidities.more..
  • Human longevity and common variations in the LMNA gene: a meta-analysis.more..
  • Epigenetic involvement in Hutchinson-Gilford progeria syndrome: a mini-review.more..

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