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progeroid syndromes

Thursday 16 February 2006

progeroid diseases

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.


- progeria
- Werner syndrome
- Bloom syndrome
- Rothmund-Thomson syndrome
- Hutchinson-Gilford syndrome
- Fanconi anemia
- ataxia-telangiectasia,
- xeroderma pigmentosum
- trichothiodystrophy
- Cockayne syndrome

See also

- senescence

Open references

- Progeroid syndromes and UV-induced oxidative DNA damage. Kamenisch Y, Berneburg M. J Investig Dermatol Symp Proc. 2009 Aug;14(1):8-14. doi : 10.1038/jidsymp.2009.6 PMID: 19675546 (free)


- 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

- Worman HJ, Courvalin JC. The nuclear lamina and inherited disease. Trends Cell Biol. 2002 Dec ;12(12):591-8. PMID : 12495848

- Bohr VA: Human premature aging syndromes and genomic instability. Mech Ageing Dev 123:987, 2002.