Hutchinson-Gilford Progeria Syndrome (HGPS)

Category: General Science — Genetics and Human Health

Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder characterised by features resembling accelerated ageing, beginning in childhood.

Key facts

  • It is usually caused by a de novo mutation in the LMNA gene.

  • The mutation typically leads to the production of an abnormal protein called progerin.

  • Progerin disrupts the structure and function of the nuclear envelope.

  • Common features include growth failure, hair loss, skin changes, joint stiffness and premature cardiovascular disease.

  • Most cases are sporadic rather than inherited from an affected parent.

  • Cardiovascular complications are a major cause of premature mortality.

UPSC key pointers

  • HGPS is a genetic disorder, not a contagious disease.

  • LMNA encodes lamin A, a protein involved in maintaining the nuclear structure.

  • Progeria does not mean that every organ ages at exactly the same rate as in normal ageing.

  • The disease is distinct from normal ageing and from other premature-ageing syndromes.