This month in genetics

摘要

The discovery of excessive TGF-beta signaling in Marfan syndrome has been an unexpected turn of events in our understanding of this disorder and has led to clinical trials that aim to turn down this pathway with the hope of influencing disease progression. Paradoxically, however, inactivating mutations in TGFBR1 and TGFBR2, the genes encoding the TGF-beta receptors, cause Loeys-Dietz syndrome, which shares many features with Marfan syndrome. This begs the question: how could turning up and turning down the same signaling pathway result in similar outcomes? The recent discovery of a novel and related disorder suggests a resolution to this paradox.