Türk Nöroşirürji Dergisi
2009 , Vol 19 , Num 2
Molecular Genetics of Tuberous Sclerosis Disease
1Acıbadem Maslak Hastanesi, Nöroşirürji Kliniği, İstanbul, Türkiye2İstanbul Cerrahi Hastanesi, Genetik Kliniği, İstanbul, Türkiye
3Haydarpaşa Numune Hastanesi, Nöroşirürji Klinigi, İstanbul, Türkiye
4İstanbul Üniversitesi Tıp Fakültesi, Aile Hekimliği Anabilim Dalı, İstanbul, Türkiye
5Ondokuz Mayıs Üniversitesi Tıp Fakültesi, Nöroşirürji Anabilim Dalı, Samsun, Türkiye
6Marmara Üniversitesi Tıp Fakültesi, Tıbbi Genetik Anabilim Dalı, İstanbul, Türkiye Tuberous sclerosis is a genetic multisystem disorder characterised by widespread hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung, and liver. The affected genes are TSC1 and TSC2, encoding hamartin and tuberin respectively. The hamartin–tuberin complex inhibits the mammalian-target-of-rapamycin pathway, which controls cell growth and proliferation. Increasing understanding of the molecular abnormalities caused by tuberous sclerosis may enable improved management of this disease. Anahtar Kelimeler : Tuberous sclerosis, Hamartin, Tuberin, TSC1, TSC2