Researchers have made an important discovery how mutations in a novel gene, ANGPT2, cause a lymphatic disease called primary lymphedema. Discovery is essential for the proper diagnosis of patients suffering from primary lymphedema.
The Human Molecular Genetics laboratory of the de Duve Institute (UCLouvain), headed by Professor Miikka Vikkula, recently identified mutations in a novel gene, ANGPT2, responsible for primary lymphedema. Together with the Wihuri Research Institute and it’s director Professor Kari Alitalo at the University of Helsinki the laboratories could show how these mutations cause the disease.
“The mutations result in loss of the normal function of the ANGPT2 protein that is known to play a role in lymphatic and blood vessel maturation. This important discovery opens possibilities for the development of improved treatments of lymphedema”, explains Professor Alitalo.
The discovery is recently published in Science Translational Medicine.
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