Hutchinson-Gilford Progeria Syndrome ("Progeria", or "HGPS") is a rare, fatal genetic condition characterized by an appearance of accelerated aging in children. Its name is derived from the Greek and means "prematurely old." Nuclear DNA repair mutants exhibit progeroid symptoms. There are many types of DNA damage, and, accordingly, we have evolved mechanisms to deal with each type of damage. Nucleotide excision repair removes bulky adducts, and base excision repair removes damaged bases. Mismatch repair fixes nucleotides that aren’t matched in their correct A:T/G:C configuration. Lastly, non-homologous end joining and recombination can fix double stranded breaks. Deficiencies in several of these repair mechanisms have been implicated in aging, and they may play a role in age-related disease.
Children with progeria, also known as Hutchinson-Gilford progeria syndrome (HGPS), generally appear normal at birth. By 12 months, signs and symptoms, such as skin changes and hair loss, begin to appear. The average life expectancy for a child with progeria is 13, but some with the disease die younger and some live 20 years or longer. Heart problems or stroke is the eventual cause of death in most children with progeria. There's no cure for this condition, but ongoing research shows some promise for treatment.