The Causes And Diagnosis Of Erdheim-Chester Disease

Gene Mutation

Erdheim-Chester disease is not an inheritable genetic condition, which means the mutation occurs at some point in an individual's life in a sub-population of the progenitor macrophage cells. Over half of all patients tested positive for the BRAF V600E mutation. The BRAF gene produces a protein involved in the RAS/MAPK cell signaling pathway. This pathway is important in controlling cell growth, proliferation, differentiation, and normal cell death. The gene mutation produces an abnormally active faulty protein. This altered protein interrupts cell cycle controls and allows unregulated overproduction of the macrophages. Other mutations involving the MAPK and PIK3 pathways of the cell have been uncovered in recent studies. MAPK (mitogen-activated protein kinase) and PIK3 (Phosphoinositide 3-kinase) pathways are both cell signaling pathways involved in essential functions such as growth and division. Mutation in these genes is common among a variety of cancers.

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