Nörofibromatozis Tip1 ile İlişkili Tümörlerde Koronin 1A İfadesinin Belirlenmesi

Abstract

Neurofibromatosis Type 1 (NF1) is an autosomal dominant disorder characterized by pigmentation abnormalities, failure of skeleton and cardiovascular system with predisposition of tumorogenesis. Nf1 gene product neurofibromin is a negative regulator of Ras protein that controls cell proliferation, differentiation and morphogenesis. Mutant neurofibromin will hyperactivate Ras and stimulate cell proliferation and tumor formation. Neurofibromas, the characteristic features of the disease, have dermal and plexiform types. Neurofibromas are heterogenous according to cell types, but it is known that Nf1 -/- Schwann cells are responsible for tumorigenic progression. In recent studies Coronin protein family is shown to play a role in various types of tumor progression. In this study, we investigated the expression of Coronin 1A on NF1 related tumors. For this purpose, the expression level and localization of Coronin 1A in neurofibromas detected and compared with the human normal Schwann cells which are predominant cell population of the neurofibromas. When expression analysis of neurofibromas and human normal Schwann cells compaired; 4,42-57,28 fold increase in Coronin 1A, and 145,42 – 785,85 fold increase in S100 expression has been detected in neurofibromas.