title: Fibroblasts from normal skin of a tuberous sclerosis patient show upregulation of mTOR pathway.
abstract: Skin lesions are one of the characteristic features in tuberous sclerosis (TS), a neurocutaneous disorder caused by mutation of 1 of 2 tumor suppressor genes, encoding hamartin and tuberin. So far, however, studies on skin abnormalities present in TS patients are very few and do not contribute to the knowledge of the disease. In our current work, we cultured fibroblasts from healthy skin of a TS patient and evaluated upregulation of pathways found to be implicated in progression of TS tumors. We found that even healthy skin fibroblasts show upregulation of S6 ribosomal protein.
authors.affiliation: Department of Histology and Embryology, Center for Biostructure Research, Medical University of Warsaw, Warsaw, Poland.
authors.forename: Jaroslaw
authors.initials: J
authors.lastname: Jozwiak
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Kotulska
authors.forename: Magdalena
authors.initials: M
authors.lastname: Lojek
authors.forename: Ryszard
authors.initials: R
authors.lastname: Galus
authors.forename: Sergiusz
authors.initials: S
authors.lastname: Jozwiak
authors.forename: Dariusz
authors.initials: D
authors.lastname: Polnik
authors.forename: Pawel K
authors.initials: PK
authors.lastname: Wlodarski
mesh_terms: D002648:Child; D005260:Female; D005347:Fibroblasts / Q000378:metabolism*; D006801:Humans; D010766:Phosphorylation; D011494:Protein Kinases / Q000378:metabolism*; D038601:Ribosomal Protein S6 / Q000378:metabolism; D015398:Signal Transduction / Q000502:physiology*; D012867:Skin / Q000378:metabolism*; D058570:TOR Serine-Threonine Kinases; D014402:Tuberous Sclerosis / Q000378:metabolism*; D015854:Up-Regulation
chemical_list: D038601:Ribosomal Protein S6; D011494:Protein Kinases; C546842:MTOR protein, human; D058570:TOR Serine-Threonine Kinases