A rare genetic disease which causes some parts of the body to grow excessively has been linked to a cancer-associated mutation that drives cell growth, potentially paving the way for new treatments. The research findings were published in Nature Genetics.
An international collaboration among the University of Cambridge, the Sanger Institute, and the Babraham Institute in the UK and the National Institute for Health in the US has discovered that unrestrained and sometimes massive fatty ‘overgrowth’ affecting only some body regions is caused by mutations in the phosphatidylinositol-3-kinase (PI3K)/AKT signalling pathway (which is critical for cellular growth and metabolism).
The types of mutations which cause these overgrowths typically arise during embryonic development. Unlike conditions caused by genetic mutations which are transmitted from parents (in which every cell in the body is affected), in this condition only the ‘offspring’ of the cell where the mutation occurs carry the change. This accounts for why only some parts of the body are affected.