Medycyna Wet. 68 (2), 67-73, 2012

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Madej J. A.
Progerias and anticipative diseases
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.
Keywords: progerias, anticipative diseases (anticipation).