The epidemiology of premature aging and associated comorbidities

Clinical Interventions in Aging

Volumn 8, Issue , 2013, Pages 1023-1032

  Coppedè, Fabio ^a  

^a UNIVERSITY OF PISA   (Italy)

Author keywords

Atherosclerosis; Cancer; Cardiovascular diseases; Epidemiology; Genetics; Hutchinson Gilford Progeria Syndrome; Premature aging disorders; Sign and symptoms; Werner syndrome

Indexed keywords

LAMIN; METALLOPROTEINASE;

ATHEROSCLEROSIS; AUTOPSY; CARDIOVASCULAR DISEASE; CEREBROVASCULAR ACCIDENT; CEREBROVASCULAR DISEASE; COMORBIDITY; CONGESTIVE HEART FAILURE; CRANIOFACIAL MALFORMATION; DISEASE COURSE; DISEASE REGISTRY; DISEASE SEVERITY; DNA REPAIR; DNA REPLICATION; EPIGENETICS; GENE MUTATION; HEART INFARCTION; HETEROZYGOSITY; HUMAN; INSULIN RESISTANCE; NEOPLASM; PHENOTYPE; PREMATURE AGING; PREVALENCE; PROGERIA; PROTEIN PROCESSING; REVIEW; SKELETON MALFORMATION; SYMPTOMATOLOGY; WERNER SYNDROME; AGING, PREMATURE; FEMALE; GENETICS; MALE; PATHOPHYSIOLOGY;

AGING, PREMATURE; COMORBIDITY; FEMALE; HUMANS; MALE;

EID: 84881272080     PISSN: 11769092     EISSN: 11781998     Source Type: Journal    
DOI: 10.2147/CIA.S37213     Document Type: Review

References (46)

1. Coppedè F. Premature aging syndrome. Adv Exp Med Biol. 2012;724: 317-331.
2. Pollex RL, Hegele RA. Hutchinson-Gilford progeria syndrome. Clin Genet. 2004;66(5):375-381.
3. Hutchinson J. Congenital absence of hair and mammary glands with atrophic condition of the skin and its appendages, in a boy whose mother had been almost wholly bald from alopecia areata from the age of six. Med Chir Trans. 1886;69:473-477.
4. Gilford H. Progeria: a form of senilism. Practitioner. 1904;73:188-217.
5. Eriksson M, Brown WT, Gordon LB, et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature. 2003;423(6937):293-298.
6. Dechat T, Pfleghaar K, Sengupta K, et al. Nuclear lamins: major factors in the structural organization and function of the nucleus and chromatin. Genes Dev. 2008;22(7):832-853.
7. Goldman RD, Shumaker DK, Erdos MR, et al. Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A. 2004;101(24):8963-8968.
8. Hennekam RC. Hutchinson-Gilford progeria syndrome: review of the phenotype. Am J Med Genet A. 2006;140(23):2603-2624.
9. Gordon LB, Brown WT, Collins FS. Hutchinson-Gilford progeria syndrome. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviews [Internet]. Seattle, WA: University of Washington, Seattle; 1993-2013. [updated 2011].
10. Qi YC, Xie XH. Hutchinson-Gilford progeria syndrome and its relevance to cardiovascular diseases and normal aging. Biomed Environ Sci. 2013;26(5):382-389.
11. Gerhard-Herman M, Smoot LB, Wake N, et al. Mechanisms of premature vascular aging in children with Hutchinson-Gilford progeria syndrome. Hypertension. 2012;59(1):92-97.
12. Silvera VM, Gordon LB, Orbach DB, Campbell SE, Machan JT, Ullrich NJ. Imaging characteristics of cerebrovascular arteriopathy and stroke in Hutchinson-Gilford progeria syndrome. AJNR Am J Neuroradiol. 2013;34(5):1091-1097.
13. Schmidt E, Nilsson O, Koskela A, et al. Expression of the Hutchinson-Gilford progeria mutation during osteoblast development results in loss of osteocytes, irregular mineralization, and poor biomechanical properties. J Biol Chem. 2012;287(40):33512-33522.
14. Cleveland RH, Gordon LB, Kleinman ME, et al. A prospective study of radiographic manifestations in Hutchinson-Gilford progeria syndrome. Pediatr Radiol. 2012;42(9):1089-1098.
15. Ullrich NJ, Silvera VM, Campbell SE, Gordon LB. Craniofacial abnormalities in Hutchinson-Gilford progeria syndrome. AJNR Am J Neuroradiol. 2012;33(8):1512-1518.
16. Guardiani E, Zalewski C, Brewer C, et al. Otologic and audiologic manifestations of Hutchinson-Gilford progeria syndrome. Laryngoscope. 2011;121(10):2250-2255.
17. Kalil KA, Fargalley HS. Hypoparathyroidism in an Egyptian child with Hutchinson-Gilford progeria syndrome: a case report. J Med Case Rep. 2012;6:17.
18. Coppedè F, Migliore L. DNA repair in premature aging disorders and neurodegeneration. Curr Aging Sci. 2010;3(1):3-19.
19. De Sandre-Giovannoli A, Bernard R, Cau P, et al. Lamin a truncation in Hutchinson-Gilford progeria. Science. 2003;300(5628):2055.
20. Moulson CL, Fong LG, Gardner JM, et al. Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes. Hum Mutat. 2007;28(9):882-889.
21. Fukuchi K, Katsuya T, Sugimoto K, et al. LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome. J Med Genet. 2004;41(5):e67.
22. Shalev SA, De Sandre-Giovannoli A, Shani AA, Levy N. An association of Hutchinson-Gilford progeria and malignancy. Am J Med Genet A. 2007;143A(16):1821-1826.
23. Doubaj Y, De Sandre-Giovannoli A, Vera EV, et al. An inherited LMNA gene mutation in atypical Progeria syndrome. Am J Med Genet A. 2012;158A(11):2881-2887.
24. Barrowman J, Wiley PA, Hudon-Miller SE, Hrycyna CA, Michaelis S. Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity. Hum Mol Genet. 2012;21(18):4084-4093.
25. Chen L, Lee L, Kudlow BA, et al. LMNA mutations in atypical Werner's syndrome. Lancet. 2003;362(9382):440-445.
26. Kane MS, Lindsay ME, Judge DP, et al. LMNA-associated cardiocutaneous progeria: An inherited autosomal dominant premature aging syndrome with late onset. Am J Med Genet A. 2013;161(7):1599-1611.
27. Conneely KN, Capell BC, Erdos MR, et al. Human longevity and common variations in the LMNA gene: a meta-analysis. Aging Cell. 2012;11(3):475-481.
28. Rodríguez S, Eriksson M. Low and high expressing alleles of the LMNA gene: implications for laminopathy disease development. PLoS ONE. 2011;6(9):e25472.
29. Jacob KN, Garg A. Laminopathies: multisystem dystrophy syndromes. Mol Genet Metab. 2006;87(4):289-302.
30. Goto M. Clinical aspects of Werner's syndrome: its natural history and the genetics of the disease. In: Lebel M, editor. Molecular Mechanisms of Werner's Syndrome. New York, NY: Kluver Academic Plenum Publishers; 2004:1-11.
31. Masala MV, Scapaticci S, Olivieri C, et al. Epidemiology and clinical aspects of Werner's syndrome in North Sardinia: description of a cluster. Eur J Dermatol. 2007;17(3):213-216.
32. Werner O. On Cataract in Conjunction with Scleroderma [dissertation]. Kiel, Germany: Schmidt and Klaunig; 1904.
33. Goto M, Ishikawa Y, Sugimoto M, Furuichi Y. Werner syndrome: a changing pattern of clinical manifestations in Japan (1917-2008). Biosci Trends. 2013;7(1):13-22.
34. Yu CE, Oshima J, Fu YH, et al. Positional cloning of the Werner's syndrome gene. Science. 1996;272(5259):258-262.
35. Muftuoglu M, Oshima J, von Kobbe C, Cheng WH, Leistritz DF, Bohr VA. The clinical characteristics of Werner syndrome: molecular and biochemical diagnosis. Hum Genet. 2008;124(4):369-377.
36. Friedrich K, Lee L, Leistritz DF, et al. WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations. Hum Genet. 2010;128(1):103-111.
37. Melcher R, von Golitschek R, Steinlein C, et al. Spectral karyotyping of Werner syndrome fibroblast cultures. Cytogenet Cell Genet. 2000;91(1-4):180-185.
38. Takemoto M, Mori S, Kuzuya M, et al. Diagnostic criteria for Werner syndrome based on Japanese nationwide epidemiological survey. Geriatr Gerontol Int. 2013;13(2):475-481.
39. Lauper JM, Krause A, Vaughan TL, Monnat RJ. Spectrum and risk of neoplasia in Werner syndrome: a systematic review. PLoS ONE. 2013;8(4):e59709.
40. Anderson NE, Haas LF. Neurological complications of Werner's syndrome. J Neurol. 2003;250(10):1174-1178.
41. Malandrini A, Dotti MT, Villanova M, Battisti C, Federico A. Neurological involvement in Werner's syndrome: clinical and biopsy study of a familial case. Eur Neurol. 2000;44(3):187-189.
42. Umehara F, Abe M, Nakagawa M, et al. Werner's syndrome associated with spastic paraparesis and peripheral neuropathy. Neurology. 1993;43(6):1252-1254.
43. Just A, Canaple S, Joly H, Piussan C, Rosa A. Complications neurologiques dans un cas de syndrome de Werner [Neurologic complications in a case of Werner syndrome.] Rev Neurol (Paris). 1996;152(10):634-636. French.
44. Kawamura H, Mori S, Murano S, Yokote K, Tamura K, Saito Y. [Werner's syndrome associated with progressive subcortical vascular encephalopathy of the Binswanger type.] Nihon Ronen Igakkai Zasshi. 1999;36(9):648-651. Japanese.
45. Hisama FM, Kubisch C, Martin GM, Oshima J. Clinical utility gene card for: Werner syndrome. Eur J Hum Genet. 2012;20(5).
46. Gordon LB, Kleinman ME, Miller DT, et al. Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A. 2012;109(41): 16666-16671.