Hutchinson-Gilford Progeria Syndrome (HGPS)
Why in News?
New Drug Development, Sentynl Therapeutics (a subsidiary of Zydus Lifesciences) signed a licensing deal with South Korea's PRG S&T to develop Progerinin (SLC-D011).
Genetic Cause & Mechanism
- Mutation: Caused by a tiny, spontaneous (de novo) mutation in the LMNA gene.
- Toxic Protein: The mutation leads to the production of an abnormal protein called progerin.
- Cellular Damage: Progerin makes cell nuclei unstable, leading to early cell death and rapid tissue deterioration.
- Inheritance: It is not typically inherited; it occurs randomly in about 1 in every 4 million live births.
Physical Symptoms & Traits
- Onset: Children appear normal at birth but show signs of rapid aging within 12 to 24 months.
- Appearance: Distinctive features include total hair loss (alopecia), thin wrinkled skin, a "beaked" nose, a small jaw, and prominent eyes.
- Growth: Severe growth failure and loss of body fat (lipodystrophy).
- Intellect: Unlike physical health, mental and motor development remains completely normal.
Medical Complications & Life Expectancy
- Cardiovascular Health: The most critical complication is severe atherosclerosis (hardening of the arteries).
- Cause of Death: Over 80% of patients die from heart attacks or strokes.
- Average Lifespan: Approximately 14.5 years, though some individuals may live into their early 20s.
Emerging Treatments
- FDA-Approved Drug: Lonafarnib (Zokinvy), approved in 2020, is the first targeted therapy. It can extend lifespan by about 2.5 to 4.3 years.
- Supportive Care: Includes low-dose aspirin (to prevent strokes), physical therapy, and high-calorie diets.
- Future Frontiers: Researchers are exploring gene-editing (CRISPR) to correct the mutation and RNA-based therapies to block progerin production.
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