Thursday 16 February 2006
Progeroid syndromes are a group of diseases characterized by signs of premature aging. These syndromes comprise diseases such as Werner syndrome, Bloom syndrome, Rothmund-Thomson syndrome, Hutchinson-Gilford syndrome, Fanconi anemia, and ataxia-telangiectasia, as well as xeroderma pigmentosum, trichothiodystrophy, and Cockayne syndrome.
Clinical symptoms of premature aging are skin atrophy with loss of cutaneous elasticity, dysfunction of cutaneous appendices, degeneration of the central nervous system and an increased susceptibility for malignant tumors.
Genetic defects in the repair of DNA damage can lead to progeroid syndromes, and it is becoming increasingly evident that direct DNA damage and indirect damage by highly reactive oxygen species play central roles in aging.
Kudlow BA, Kennedy BK, Monnat RJ Jr. Werner and Hutchinson-Gilford progeria syndromes: mechanistic basis of human progeroid diseases. Nat Rev Mol Cell Biol. 2007 May;8(5):394-404. PMID: 17450177
Martin GM, Oshima J: Lessons from human progeroid syndromes. Nature 408:263, 2000.
Novelli G, D’Apice MR. The strange case of the "lumper" lamin A/C gene and human premature ageing. Trends Mol Med. 2003 Sep;9(9):370-5. PMID: 13129702
Bohr VA: Human premature aging syndromes and genomic instability. Mech Ageing Dev 123:987, 2002.