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2012 | 68 | 02 |

Tytuł artykułu

Progerias and anticipative diseases

Autorzy

Warianty tytułu

Języki publikacji

EN

Abstrakty

EN
Progerias or senescence syndromes are inherited diseases which develop during childhood and resemble an accelerated in time aging of a mature body. The few progeria types which have been described, i.e. Werner’s syndrome, the syndrome of Hutchinson-Gilford, Cochainer’s syndrome, Down’s syndrome and ataxia teleangiectasia, reflect molecular defects in the repair of DNA. Recognition of etiopathogenesis and clinics of progeria would provide a chance for early detection of the diseases, e.g. in the prenatal period, as well as its more effective treatment. This, perhaps, may provide one of the keys for the recognition of the natural, extremely complex process of body senescence. Anticipative diseases, in turn, represent diseases of children which in their development outpace, even by a few years, and manifest a more acute course, than the same disease noted in the parents. The diseases result from unstable tandem trinucleotide repeats (TREDs). Diseases of this type include myotoic dystrophy 1 (DM1), Huntington’s disease, syndrome of fragile X chromosome, Alzheimer’s disease, Parkinson’s disease, as well as most probably also chronic myeloproliferative diseases (CMDs), Turner’s syndrome and Klinefelter’s syndrome. An attempt was made to compare progerias and anticipative diseases but the problem is difficult to implement at the current condition of knowledge.

Słowa kluczowe

Wydawca

-

Rocznik

Tom

68

Numer

02

Opis fizyczny

p.67-73,fig.,ref.

Twórcy

autor
  • Chair of Pathology, Department of Pathomorphology and Forensic Veterinary Medicine, Faculty of Veterinary Medicine, Wroclaw University of Environmental and Life Science, Norwida 31, 50-375 Wroclaw, Poland

Bibliografia

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  • 3.Cao H., Hegele R. A.: LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). J. Hum. Genet. 2003, 4, 271-274.
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  • 17.Nam V., Hyoung-Yeon S., Robinson A., Sowa G., Bentley D., Taylor L., Studer R., Usas A., Huard J., Watkins S. C., Lee J., Coehlo P., Wang D., Loppin M., Robbins P. D., Niedernhofer L. J., Kang J.: Accelerated aging of intervertebral disco in a mouse model of progeria. J. Orthop. Res. 2010, 28, 1600-1607.
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