Genetically determined syndromes associated with premature aging;Genetycznie uwarunkowane zespoły chorobowe zwia̧zane z przedwczesnym starzeniem

Postepy Dermatologii i Alergologii

Volumn 27, Issue 4, 2010, Pages 282-290

  Nedoszytko, Bogusław ^a  

^a MEDICAL UNIVERSITY OF GDANSK   (Poland)

Author keywords

Cancer; DNA repair; Genomic instability; Nuclear envelope; Premature aging syndromes; Telomeres

Indexed keywords

HELICASE; TELOMERASE;

ATAXIA TELANGIECTASIA; BLOOM SYNDROME; CELL NUCLEUS MEMBRANE; CHROMOSOME ABERRATION; COCKAYNE SYNDROME; CUTIS LAXA; DNA REPAIR; DOWN SYNDROME; DYSKERATOSIS CONGENITA; EHLERS DANLOS SYNDROME; EXCISION REPAIR; EXTRACELLULAR MATRIX; GENE MUTATION; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC TRANSCRIPTION; HUMAN; LIPODYSTROPHY; MOLECULAR GENETICS; PATHOPHYSIOLOGY; PREMATURE AGING; PROGERIA; REVIEW; ROTHMUND THOMSON SYNDROME; WERNER SYNDROME; XERODERMA PIGMENTOSUM;

EID: 77958027468     PISSN: 1642395X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (38)

1. Christensen K, Johnson TE, Vaupel JW. The quest for genetic determinants of human longevity: challenges and insights. Nature Rev Genet 2006; 7: 436-48.
2. Cluett C, Melzer D. Human genetic variations: beacons on the pathways to successful ageing. Mech Ageing Dev 2009; 130: 550-63.
3. Halaschek-Wiener J, Amirabbasi-Beik M, Monfared N, et al. Genetic variation in healthy oldest-old. PLoS One 2009; 4: e6641.
4. OMIM, Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/ sites/entrez?db=omim.
5. Sikora E, Bartosz G, Witkowski J. Biogerontologia. Wydawnictwo Naukowe PWN, Warszawa 2009.
6. Martin G. Genetic syndromes in man with potential relevance to the pathobiology of aging. Birth Defects Orig Artics Ser 1977; 14: 5-39.
7. Puzianowska-Kuznicka M, Kuznicki J. Genetic alterations in accelerated ageing syndromes do they play a role in natural ageing? Int J Biochem Cell Biol 2005; 37: 947-60.
8. Garg A. Acquired and inherited lipodystrophies. N Engl J Med 2004; 350: 1220-34.
9. Stuurman N, Heins S, Aebi U. Nuclear lamins: their structure, assembly, and interactions. J Struct Biol 1998; 122: 42-66. (Pubitemid 28411184)
10. Mounkes LC, Stewart LC. Aging and nuclear organization: lamins and progeria. Curr Opin Cell Biol 2004; 16: 322-7.
11. Clements L, Manilal S, Love DR, Morris GE. Direct interaction between emerin and lamin A. Biochem Biophys Res Commun 2000; 267: 709-14.
12. Hutchinson J. Case of congenital absence of hair, 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. Lancet 1886; I: 923.
13. Hennekam RC. Hutchinson-Gilford progeria syndrome: review of the phenotype. Am J Med Genet 2006; 140: 2603-24.
14. Scaffidi P, Misteli T. Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome. Nat Med 2005; 11: 440-5.
15. Halaschek-Wiener J, Brooks-Wilson A. Progeria of stem cells: stem cell exhaustion in Hutchinson-Gilford progeria syndrome. J Gerontol A Biol Sci 2007; 62: 3-8.
16. 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: 832-53. (Pubitemid 351482836)
17. Mancini MA, Shan B, Nickerson JA, et al. The retinoblastoma gene product is a cell cycle-dependent, nuclear matrix-associated protein. Proc Natl Acad Sci U S A 1994; 91: 418-22. (Pubitemid 24018716)
18. Scaffidi P, Misteli T. Lamin A-dependent nuclear defects in human aging. Science 2006; 312: 1059-63. (Pubitemid 43752916)
19. Scaffidi P, Gordon L, Misteli T. The cell nucleus and aging: tantalizing clues and hopeful promises. PLoS Biol 2005; 3: e395.
20. Capell BC, Tloughan BE, Orlow SJ. From the rarest to the most common: insights from progeroid syndromes into skin cancer and aging. J Invest Dermatol 2009; 129: 2340-50.
21. Fong LG, Frost D, Meta M, et al. A protein farnesyltransferase inhibitor ameliorates disease in a mouse model of progeria. Science 2006; 311: 1621-3.
22. Scaffidi P, Misteli T. Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome. Nat Med 2005; 11: 440-5.
23. Bilińska ZT, Fidziańska A. Laminopatie - problem multidyscyplinarny. Kardiol Pol 2008; 66: 335-9.
24. Roszkiewicz J, Filipik J, Nedoszytko B i wsp. Układowy toczeń rumieniowaty (SLE) u pacjentki z zespołem Xeroderma pigmentosum (XP): badania kliniczne, immunologiczne i genetyczne. Przegl Dermatol 1998; 85: 331-9.
25. Nedoszytko B, Roszkiewicz J, Włodarkiewicz A. Aberracje chromosomowe w raku podstawnokomórkowym skóry u chorej z Xeroderma pigmentosum. Przegl Dermatol 1999; 86: 33-8.
26. Stefanini M, Botta E, Lanzafame M, Orioli D. Trichothiodystrophy: from basic mechanisms to clinical implications. DNA Repair (Amst) 2010; 9: 2-10.
27. Brzezińska-Wcisło L, Lis-Świȩty A, Wcisło-Dziadecka D i wsp. Wrodzone i nabyte zmiany struktury włosów. Post Dermatol Alergol 2007; 24: 282-9.
28. Dokal I, Bungey J, Williamson P, et al. Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements. Blood 1992; 80: 3090-6.
29. Heiss NS, Knight SW, Vulliamy TJ, et al. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet 1998; 19: 32-8.
30. Knight SW, Vulliamy TJ, Morgan B, et al. Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis. Hum Genet 2001; 108: 299-303. (Pubitemid 32421741)
31. Kirwan M, Dokal I. Dyskeratosis congenita: a genetic disorder of many faces. Clin Genet 2008; 73: 103-12.
32. Jasiel-Walikowska E, Nedoszytko B, Lange M. Dyskeratoza wrodzona - choroba telomerów o wielonarza̧dowej ekspresji. Przegl Dermatol 2008; 95: 543-545.
33. Jasiel-Walikowska E, Nedoszytko B, Lange M i wsp. Obraz kliniczny, badania genetyczne i molekularne w rodzinnym przypadku dyskeratozy wrodzonej. Przegl Dermatol 2008; 95: 537-41.
34. Yaghmai R, Kimyai-Asadi A, Rostamiani, et al. Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome. J Pediatr 2000; 136: 390-3.
35. Blaszczyk M, Depaepe A, Nuytinck L, et al. Acrogeria of the Gottron type in a mother and son. Eur J Dermatol 2000; 10: 36-40.
36. Okajima T, Fukumoto S, Furukawa K, Urano T. Molecular basis for the progeroid variant of Ehlers-Danlos syndrome: identification and characterization of two mutations in galactosyltransferase I gene. J Biol Chem 1999; 274: 28841-4. (Pubitemid 29477032)
37. Quentin E, Gladen A, Rodén L, Kresse H. A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome. Proc Nat Acad Sci 1990; 87: 1342-6.
38. Gleghorn L, Ramesar R, Beighton P, Wallis G. A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis. Am J Hum Genet 2005; 77: 484-90. (Pubitemid 41192654)