Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model

Immunity and Ageing

Volumn 6, Issue , 2009, Pages

  Coutinho, Henrique Douglas M ^a   Falcão Silva, Vivyanne S ^b   Gonçalves, Gregório ^b   da Nóbrega, Raphael ^b  

^a REGIONAL UNIVERSITY OF CARIRI   (Brazil)

^b FEDERAL UNIVERSITY OF PARAÍBA   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLSALICYLIC ACID; BISPHOSPHONIC ACID DERIVATIVE; COMPLEMENTARY RNA; GROWTH HORMONE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; LAMIN A; PROTEIN FARNESYLTRANSFERASE INHIBITOR;

CLINICAL FEATURE; GENE MUTATION; HEALTH CARE PERSONNEL; HUMAN; PHYSIOTHERAPY; PREMATURE AGING; PRIORITY JOURNAL; PROGERIA; PSYCHOTHERAPY; REVIEW;

EID: 65149090533     PISSN: 17424933     EISSN: None     Source Type: Journal    
DOI: 10.1186/1742-4933-6-4     Document Type: Review

References (34)

1. Rattan SI Theories of biological aging: Genes, proteins, and free radicals Free Radic Res 2006, 40:1230-1238. 10.1080/10715760600911303 17090411
2. Irminger-Finger I Science of cancer and aging J Clin Oncol 2007, 25:1844-1851. 10.1200/JCO.2007.10.8928 17488982
3. Arboleda G Ramírez N Arboleda H The neonatal progeroid syndrome (Wiedemann-Rautenstrauch): A model for the study of human aging? Exp Gerontol 2007, 42:939-943. 10.1016/j.exger.2007.07.004 17728088
4. Sarkar PK Shinton RA Hutchinson-Guilford Progeria syndrome Postgrad Med J 2001, 77:312-317. 1742040 11320273 10.1136/pmj.77.907.312
5. Pardo RAV Castillo ST Progeria Rev Chil Pediatr 2002, 73:5-8.
6. De Sandre-Giovannoli A Bernard R Cau P Navarro C Amiel J Boccaccio I Lyonnet S Stewart CL Munnich A Merrer ML Lévy N Lamin A Truncation in Hutchinson-Gilford Progeria Science 2003, 300:2055. 10.1126/science.1084125 12702809
7. Merideth MA Gordon LB Clauss S Sachdev V Smith ACM Perry MB Brewer CC Zalewski C Kim HJ Solomon B Brooks BP gerber LH Turner ML Domingo DL Hart TC Graf J Reynolds JC Gropman A Yanovski JA Gerhard-Herman M Collins FS Nabel EG Cannon RO III Gahl WA Introne WJ Phenotype and course of Hutchinson-Gilford Progeria Syndrome N Eng J Med 2008, 358:592-604. 10.1056/NEJMoa0706898
8. Engels WR Johnson-Schlitz D Flores C White L Preston CR A Third Link Connecting Aging with Double Strand Break Repair Cell Cycle 2007, 6:131-135. 17245130
9. Capell BC Collins FS Human laminopathies: Nuclei gone genetically awry Nature Rev Gen 2006, 7:940-952. 10.1038/nrg1906
10. Shah KN Kaiser HW Hanfland J Hutchinson-Gilford Progeria e Medicine Instant access to the mind of medicine 2008. http://www.emedicine.com/ derm/topic731.htm
11. De Paula Rodrigues GH Tâmega IE Duque G Dias Neto VS Severe bone changes in a case of Hutchinson-Gilford syndrome Ann Genet 2002, 45:151-155. 12381448
12. Faivre L Cormier-Daire V Progeria Orphanet encyclopedia http://www.orpha.net/data/patho/GB/uk-progeria.pdf
13. Mazereeuw-Hautier J Wilson LC Mohammed S Smallwood D Shackleton S Atherton DJ Harper JI Hutchinson-Gilford progeria syndrome: Clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature Br J Dermatol 2007, 156:1308-1314. 10.1111/ j.1365-2133.2007.07897.x 17459035
14. Wang Y Panteleyev AA Owens DM Djabali K Stewart CL Worman HJ Epidermal Expression of the Truncated Prelamin A Causing Hutchinson-Gilford Progeria Syndrome: Effects on Keratinocytes, Hair and Skin Hum Mol Genet 2008, 17:2357-2369. 10.1093/hmg/ddn136 18442998
15. Lammerding J Schulze PC Takahashi T Kozlov S Sullivan T Kamm RD Stewart CL Lee RT Lamin A/C deficiency cause defective nuclear mechanics and mechanotransduction J Clin Invest 2004, 113(3):370-378. 324542 14755334
16. Neveling K Bechtold A Hoehn H Genetic instability syndromes with progeroid features Z Gerontol Geriatr 2007, 40:339-348. 10.1007/ s00391-007-0483-x 17943237
17. Dechat T Pfleghaar K Sengupta K Shimi T Shumaker TK Solimando L Goldman RD Nuclear lamins: Major factors in the structural organization and function of the nucleus and chromatin Genes Dev 2008, 22:832-853. 10.1101/gad.1652708 18381888
18. Kudlow BA Kennedy BK Monnat RJ Werner and Hutchinson-Gilford progeria syndromes: Mechanistic basis of human progeroid diseases Nat Rev Mol Cell Biol 2007, 8:394-404. 10.1038/nrm2161 17450177
19. Worman HJ Courvalin JC How do mutations in lamins A and C cause disease? J Clin Invest 2004, 113:349-351. 324546 14755330
20. Scaffidi P Misteli T Lamin Adependent nuclear defects in human aging Science 2006, 312:1059-1063. 1855250 16645051 10.1126/science.1127168
21. Gordon LB Harten IA Calabro A Sugumaran G Csoka AB Brown WT Hascall V Toole BP Hyaluronan is not elevated in urine or serum in Hutchinson-Gilford Progeria Syndrome Hum Genet 2003, 113:178-187. 12728312
22. Eriksson M Brown WT Gordon LB Glynn MW Singer J Scott L Erdos MR Robbins CM Moses TY Berglund P Dutra A Pak E Durkin S Csoka AB Boehnke M Glover TW Collins FS Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome Nature 2003, 423:293-298. 10.1038/ nature01629 12714972
23. Kilic F Johnson DA Sinensky M Subcellular localization and partial purification of prelamin A endoprotease: An enzyme which catalyzes the conversion of farnesylated prelamin A to mature lamin A FEBS Letters 1999, 450:61-65. 10.1016/S0014-5793(99)00482-2 10350058
24. Hegele RA Drawing the line in progeria síndrome Lancet 2003, 362:416-417. 10.1016/S0140-6736(03)14097-4 12927424
25. Young SG Meta M Yang SH Fong LG Prelamin A Farnesylation and progeroid syndromes J Biol Chem 2006, 281:39741-39745. 10.1074/jbc.R600033200 17090536
26. Shackleton S Smallwood DT Clayton P Wilson LC Agarwal AK Garg A Trembath RC Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype J Med Genet 2005, 42:36. 10.1136/jmg.2004.029751
27. D'Apice MR Tenconi R Mammi I Ende van den J Novelli G Paternal origin of LMNA mutations in Hutchinson-Gilford progeria Clin Genet 2004, 65:52-54. 10.1111/j..2004.00181.x 15032975
28. Toth JI Yang SH Qiao X Beigneux AP Gelb MH Moulson CL Miner JH Young SG Fong LG Blocking protein farnesyltransferase improves nuclear shape in fibroblasts from humans with progeroid syndromes Proc Natl Acad Sci USA 2005, 102:12873-12878. 1193538 16129834 10.1073/pnas.0505767102
29. Yang SH Bergo MO Toth JI Qiao X Hu Y Sandoval S Meta M Bendale P Gelb MH Young SG Fong LG Blocking protein farnesyltransferase improves nuclear blebbing in mouse fibroblasts with a targeted Hutchinson-Gilford progeria syndrome mutation Proc Natl Acad Sci USA 2005, 102:10291-10296. 1174929 16014412 10.1073/pnas.0504641102
30. Glynn MW Glover TW Imcomplete processing of mutant lamin A in Hutchinsn-Gilford progeria leads to nuclear abnomalities, which are reversed by farnesyltransferase inhibition Hum Mol Gen 2005, 14:2959-2969. 10.1093/hmg/ddi326 16126733
31. Yang SH Qiao X Fong LG Young SG Treatment with farnesyltransferase inhibitor improves survival in mice with Hutchinson-Gilford Progeria Syndrome Mutation Biochim Biophys Acta 2008, 1781:36-39. 2266774 18082640
32. Capell BC Olive M Erdos MR Cao K Faddah DA Tavarez UL Conneely KN Qu X San H ganesh SK Chen X Avallone H Kolodgie FD Virmani R Nabel EG Collins FS A farnesyltransferase inhibitor prevents both the onset and late progression of cardiovascular disease in a progeria mouse model Proc Nat Acad Sci USA 2008, 105:15902-15907. 2562418 18838683 10.1073/ pnas.0807840105
33. Young SG Fong LG Michaelis S Prelamin A, Zmpste24, misshapen cell nuclei, and progeria - new evidence suggesting that protein farnesylation could be important for disease pathogenesis J Lipid Res 2005, 46:2531-2558. 10.1194/jlr.R500011-JLR200 16207929
34. Meta M Yang SH Bergo MO Fong LG Young SG Protein farnesyltransferase inhibitors and progeria Trends Mol Med 2006, 12:480-487. 10.1016/ j.molmed.2006.08.006 16942914