Clinical manifestations of tuberous sclerosis complex

Year 2013, Volume: 18 Issue: 2, 52 - 57, 03.07.2013

Ahmet Engin Atay Halit Akbas Nafi Sakar Semir Pasa Seyhmus Ari Nazim Ekin

Abstract

Abstract: Tuberous sclerosiscomplex (TSC) is an autosomal dominant syndrome or in sporadic formcharacterized by hamartamatous lesions in multiple organs. It affects severalsites such as skin, kidney, lung, heart, central nervous system and liver indiferent stages of disease. TSC is caused by mutations on either chromosome 9 (9q34, the TSC1 gene) or chromosome 16 (16p13,TSC2 gene). TSC1 and TSC2genes encode proteins called tuberin and hamartin; respectively. Although thepathogenetic mechanism is exactly unknown, a possible mechanism is aGTPase-activating protein against Rheb (Ras homolog enriched in brain),which  regulates mTOR (mammalian targetof rapamycin) signaling. The mammalian target of rapamycin (mTOR), is aserine-threonine kinase that increases cell proliferation and growth. We aimedto review the clinical manifestations and their predictive role on the course of disease.Keywords: Tuberous Sclerosis, autosomal dominant

Keywords

Tuberous Sclerosis, autosomal dominant

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