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premature aging diseases
Tuesday 28 October 2003
premature ageing disorders, premature aging, premature aging syndromes, premature aging disorders: Accelerated aging disease ; progeroid syndroms
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Definition: Progeroid syndromes (PS) are a group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are.
The term progeroid syndrome does not necessarily imply progeria (Hutchinson–Gilford progeria syndrome), which is a specific type of progeroid syndrome.
Types
progeroid syndroms
- progeria (mutations in lamin A/C)
- Werner syndrome (MIM.277700)
- Bloom syndrome (MIM.210900)
- Rothmund-Thomson syndrome (MIM.268400) by RECQL4 (MIM.603781) or RECQL5 (MIM.603781) mutations
- Hutchinson-Gilford syndrome
- Fanconi anemia
- ataxia-telangiectasia
- xeroderma pigmentosum
- trichothiodystrophy
- Cockayne syndrome
- dyskeratosis congenita
-* NHP2 mutations (18523010)
References
Razzaque MS, Lanske B. Hypervitaminosis D and premature aging: lessons learned from Fgf23 and Klotho mutant mice. Trends Mol Med. 2006 Jul;12(7):298-305. PMID: 16731043
Chang S. Modeling premature aging syndromes with the telomerase knockout mouse. Curr Mol Med. 2005 Mar;5(2):153-8. PMID: 15974868
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.
