A novel gene involved in primary lymphedema identified

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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, Finland, 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." Professor Kari Alitalo, University of Helsinki, Finland

The discovery is recently published in Science Translational Medicine.

Influence of the ANGPT2 gene mutations causing lymphedema shown in humans for the first time

Lymphedema is a strongly invalidating chronic disease resulting from abnormal development or function of the lymphatic system. In the patients, lymph is poorly drained from tissues, thus it accumulates in e.g. the legs or arms, causing swelling, and fibrosis, limiting the mobility of the affected body part and increasing the likelihood of infections in it.

Lymphedema can be either primary, when there is no known underlying cause, or secondary, when it results from removed or damaged lymph vessels, e.g. after surgery, infection or cancer treatment. Primary lymphedema is often inherited.

The team of the de Duve Institute with its large international network of collaborators, including the Center for Vascular Anomalies and the Center for Medical Genetics of the Saint-Luc hospital in Brussels, has collected samples from almost 900 patients (and family members) suffering from primary lymphedema. By using whole-exome sequencing (i.e. the sequencing of all the coding parts of the genes in our genome), mutations in ANGPT2 were discovered in lymphedema patients from five families.

The ANGPT2 encodes the angiopoietin 2 protein, a growth factor that binds to receptors in blood and lymphatic vessels that were first identified in Professor Alitalo's laboratory.

"ANGPT2 has previously been shown to influence lymphatic development…
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