The Artemis Association for Histiocytosis
The research project supported by the A. G. Leventis Foundation is titled ‘Cell Autonomous Mechanisms in the Pathogenesis of Langerhans Cell Histiocytosis (LCH)’ and relates to the discovery of a genetic mutation found in half of LCH samples tested. This mutation (called BRAF V600E) is found in several human tumour types and alters the transmission of signals from the cell surface to the nucleus. In this project, Professors Frederic Geismann and Matthew Collin are exploring how the mutation affects the behaviour of Langerhans cells and whether it is found in other cell types in LCH patients. Professor Geissmann has analysed 16 more LCH lesion samples and confirmed that BRAF mutations are present in 11/16 of them. Professor Collin is analysing how the signalling pathway of which BRAF is a part is influenced by V600E. He is using fluorescent dyes to detect changes in signalling molecules (called MEK and ERK) and has already shown that another molecule (Langerin) found in LCH is more easily expressed in blood cells from LCH patients than normal individuals.
Grant given:
2012, 2013, 2014, 2015, 2016, 2017, 2018, 2019, 2020, 2021, 2022
