Fibroblasts from normal skin of a tuberous sclerosis patient show upregulation of mTOR pathway.
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.
Jozwiak
Jaroslaw
J
Department of Histology and Embryology, Center for Biostructure Research, Medical University of Warsaw, Warsaw, Poland.
Kotulska
Katarzyna
K
Lojek
Magdalena
M
Galus
Ryszard
R
Jozwiak
Sergiusz
S
Polnik
Dariusz
D
Wlodarski
Pawel K
PK
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
D038601:Ribosomal Protein S6; D011494:Protein Kinases; C546842:MTOR protein, human; D058570:TOR Serine-Threonine Kinases