Altered Nuclear Functions in Progeroid Syndromes: a Paradigm for Aging Research

Overview

Journal ScientificWorldJournal

Publisher Wiley

Specialty Biology

Date 2009 Dec 22

PMID 20024518

Citations 6

Authors

Baomin Li

Sonali Jog

Jose Candelario

Sita Reddy

Lucio Comai

Affiliations

Soon will be listed here.

Abstract

Syndromes of accelerated aging could provide an entry point for identifying and dissecting the cellular pathways that are involved in the development of age-related pathologies in the general population. However, their usefulness for aging research has been controversial, as it has been argued that these diseases do not faithfully reflect the process of natural aging. Here we review recent findings on the molecular basis of two progeroid diseases, Werner syndrome (WS) and Hutchinson-Gilford progeria syndrome (HGPS), and highlight functional connections to cellular processes that may contribute to normal aging.

Citing Articles

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Stem cell aging in adult progeria.

Cheung H, Pei D, Chan W Cell Regen. 2015; 4:6.

PMID: 26435834 PMC: 4592574. DOI: 10.1186/s13619-015-0021-z.

A filtering strategy identifies FOXQ1 as a potential effector of lamin A dysfunction.

Candelario J, Chen L, Marjoram P, Reddy S, Comai L Aging (Albany NY). 2012; 4(8):567-77.

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Oxidative stress induces an ATM-independent senescence pathway through p38 MAPK-mediated lamin B1 accumulation.

Barascu A, Le Chalony C, Pennarun G, Genet D, Imam N, Lopez B EMBO J. 2012; 31(5):1080-94.

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References

Broers J, Ramaekers F, Bonne G, Ben Yaou R, Hutchison C . Nuclear lamins: laminopathies and their role in premature ageing. Physiol Rev. 2006; 86(3):967-1008. DOI: 10.1152/physrev.00047.2005. View

Dahl K, Scaffidi P, Islam M, Yodh A, Wilson K, Misteli T . Distinct structural and mechanical properties of the nuclear lamina in Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A. 2006; 103(27):10271-10276. PMC: 1502447. DOI: 10.1073/pnas.0601058103. View

Wu L, Multani A, He H, Cosme-Blanco W, Deng Y, Deng J . Pot1 deficiency initiates DNA damage checkpoint activation and aberrant homologous recombination at telomeres. Cell. 2006; 126(1):49-62. DOI: 10.1016/j.cell.2006.05.037. View

Hennekam R . Hutchinson-Gilford progeria syndrome: review of the phenotype. Am J Med Genet A. 2006; 140(23):2603-24. DOI: 10.1002/ajmg.a.31346. View

Maizels N . Dynamic roles for G4 DNA in the biology of eukaryotic cells. Nat Struct Mol Biol. 2006; 13(12):1055-9. DOI: 10.1038/nsmb1171. View

De Sandre-Giovannoli A, Bernard R, Cau P, Navarro C, Amiel J, Boccaccio I . Lamin a truncation in Hutchinson-Gilford progeria. Science. 2003; 300(5628):2055. DOI: 10.1126/science.1084125. View

Agarwal A, Fryns J, Auchus R, Garg A . Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Hum Mol Genet. 2003; 12(16):1995-2001. DOI: 10.1093/hmg/ddg213. View

Baynton K, Otterlei M, Bjoras M, von Kobbe C, Bohr V, Seeberg E . WRN interacts physically and functionally with the recombination mediator protein RAD52. J Biol Chem. 2003; 278(38):36476-86. DOI: 10.1074/jbc.M303885200. View

Stellwagen A, Haimberger Z, Veatch J, Gottschling D . Ku interacts with telomerase RNA to promote telomere addition at native and broken chromosome ends. Genes Dev. 2003; 17(19):2384-95. PMC: 218076. DOI: 10.1101/gad.1125903. View

10.

Machwe A, Xiao L, Orren D . TRF2 recruits the Werner syndrome (WRN) exonuclease for processing of telomeric DNA. Oncogene. 2004; 23(1):149-56. DOI: 10.1038/sj.onc.1206906. View

11.

Ferreira M, Miller K, Cooper J . Indecent exposure: when telomeres become uncapped. Mol Cell. 2004; 13(1):7-18. DOI: 10.1016/s1097-2765(03)00531-8. View

12.

Zastrow M, Vlcek S, Wilson K . Proteins that bind A-type lamins: integrating isolated clues. J Cell Sci. 2004; 117(Pt 7):979-87. DOI: 10.1242/jcs.01102. View

13.

Li B, Navarro S, Kasahara N, Comai L . Identification and biochemical characterization of a Werner's syndrome protein complex with Ku70/80 and poly(ADP-ribose) polymerase-1. J Biol Chem. 2004; 279(14):13659-67. DOI: 10.1074/jbc.M311606200. View

14.

Pollex R, Hegele R . Hutchinson-Gilford progeria syndrome. Clin Genet. 2004; 66(5):375-81. DOI: 10.1111/j.1399-0004.2004.00315.x. View

15.

Broers J, Hutchison C, Ramaekers F . Laminopathies. J Pathol. 2004; 204(4):478-88. DOI: 10.1002/path.1655. View

16.

Wang R, Smogorzewska A, de Lange T . Homologous recombination generates T-loop-sized deletions at human telomeres. Cell. 2004; 119(3):355-68. DOI: 10.1016/j.cell.2004.10.011. View

17.

Epstein C, Martin G, SCHULTZ A, Motulsky A . Werner's syndrome a review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process. Medicine (Baltimore). 1966; 45(3):177-221. DOI: 10.1097/00005792-196605000-00001. View

18.

Kunisada T, Yamagishi H, OGITA Z, Kirakawa T, Mitsui Y . Appearance of extrachromosomal circular DNAs during in vivo and in vitro ageing of mammalian cells. Mech Ageing Dev. 1985; 29(1):89-99. DOI: 10.1016/0047-6374(85)90050-8. View

19.

Salk D, Au K, Hoehn H, Martin G . Cytogenetic aspects of Werner syndrome. Adv Exp Med Biol. 1985; 190:541-6. DOI: 10.1007/978-1-4684-7853-2_27. View

20.

Gebhart E, Bauer R, Raub U, Schinzel M, Ruprecht K, Jonas J . Spontaneous and induced chromosomal instability in Werner syndrome. Hum Genet. 1988; 80(2):135-9. DOI: 10.1007/BF00702855. View