Hutchinson-Gilford Progeria Syndrome (HGPS)

Hutchinson-Gilford Progeria Syndrome (HGPS) Latest News

U.S.-based Sentynl Therapeutics (part of Zydus Lifesciences) recently signed a deal with South Korea’s PRG S&T to develop Progerinin, a pill aimed at treating Hutchinson-Gilford progeria syndrome (HGPS).

About Hutchinson-Gilford Progeria Syndrome (HGPS)

• Progeria, also known as HGPS, is an extremely rare genetic disease that causes rapid aging in children.
• Progeria is extremely rare. It occurs in 1 in every 4 million live births worldwide.
• What Causes Progeria?
  • A genetic mutation in the LMNA gene causes progeria.  The LMNA gene is responsible for making a protein called lamin A.
  • Lamin A is an important part of the structural scaffolding that holds the nucleus of each cell in your body together.
  • A tiny mutation in the LMNA gene causes it to create an irregular form of the lamin A protein called progerin. 
  • Progerin takes the place of the lamin A and makes the nuclei of your cells unstable, slowly damaging them. 
  • This leads to the early death of every cell in your body, which causes the process of premature aging.
  • Almost all cases of progeria occur as a new, spontaneous mutation in the LMNA gene. This means there’s no biological family history of the disease.
• Newborns with the disorder appear to be healthy at birth but usually start to show signs of premature aging during their first one to two years of life. 
• Their growth rate slows and they don’t gain weight as expected. 
• This condition does not affect intellectual development or the development of motor skills such as sitting, standing, and walking. 
• However, their rapid aging causes distinct physical characteristics, including:
  • Hair loss (baldness).
  • Prominent eyes.
  • Aged, wrinkled skin.
  • A thin, beaked nose.
  • Disproportionately small face compared to head size.
  • Loss of fat under the skin.
• Progeria is always fatal. The average age of death is 14.5 years, although some adults with progeria will live into their early 20s.
• Death most often occurs as a result of complications of severe atherosclerosis. 
  • Atherosclerosis occurs when plaque builds up within the walls of your arteries. This makes them less elastic and, therefore, stiffer.
  • This condition greatly increases the chances of having a heart attack or stroke at a young age.

Source: NB

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