TELOMERE LENGHT IN THE WIEDEMANN -RAUTENSTRAUCH NEONATAL PROGEROID SYNDROME

¹Korniszewski L., ²Nowak R., ²Okninska - Hoffmann E. ¹Skórka A. ²Rochowska M.

¹The Medical University of Warsaw, Department of Pediatric Diabetology and Birth Defects, ²Cancer Center - Institute, Department of Molecular Biology, Warsaw, Poland

We present a case of Wiedemann - Rautenstrauch syndrome -extremely rare syndrome associated with neonatal progeria. At birth progeroid appearance was noted with large head, triangular face, deep set eyes, small nose and two natal teeth. During 15 years of observation progeroid appearance of face remained almost unchanged. She is severly mentally and physically retarded, have no palpable adipose tissue except of caudal region. Premature senility prompted us to examine some parametes of cellular senescence. So far telomere lenght was examined in fibroblasts from patients with two other syndromes associated with progeria: Werner syndrome and Hutchinson-Gilford syndrome. We performed analysis of terminal restriction fragment (TRF) lenght as a measure of telomere lenght. Mean TRF lenght was 13.5 kb of our patient fibroblasts which is not shortened when compared to the normal fibroblasts. From our results it seems that the replicative lifespan of fibroblasts in culture does not correlate with donor age.