Research ArticleVascular Biology

Characterization of ANGPT2 mutations associated with primary lymphedema

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Science Translational Medicine  09 Sep 2020:
Vol. 12, Issue 560, eaax8013
DOI: 10.1126/scitranslmed.aax8013

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Variant vessels and leaky lymphatics

Lymphedema can occur when tissue fluid cannot enter or leaks from the lymphatic system into surrounding tissues. Some genetic causes of primary lymphedema are known, but these currently explain a minority of cases. Previous studies have shown that dominant-negative mutations in angiopoietin 2 (ANGPT2), which is involved in lymphatic vessel formation and maturation, promote lymphangiogenesis in mice. Leppänen et al. now show that inactivating mutations in angiopoietin 2 associate with primary lymphedema in humans.

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