Research Offers New Insight Into RASopathy-Associated Lymphatic Defects

news headlines

email to a friend

printer friendly

Research Offers New Insight Into RASopathy-Associated Lymphatic Defects

Main Category: Lymphology/Lymphedema
Also Included In: Genetics
Article Date: 14 Feb 2013

The RAS pathway is a cellular signaling pathway that regulates growth and development in humans.

RASopathies are a group of diseases characterized by defects in RAS signaling. Many patients with RASopathies present with defects in the lymphatic system, which removes excess fluid from tissues, absorbs fats from the digestive system, and transports immune cells.

To determine how alterations in the RAS pathway affect development of the lymphatic system, researchers at Yale University generated transgenic mice that expressed mutations associated with a RASopathy known as Noonan syndrome.

In this issue of the Journal of Clinical Investigation, Michael Simon and colleagues report that excess RAS pathway activation triggers increased activity of a protein known as ERK. Mice with RASopathy-associated mutations exhibited lymphatic defects similar to those seen in humans, but the defects could be reversed by treatment with an ERK inhibitor. These findings demonstrate that excessive ERK activation underlies lymphatic defects in RASopathies and suggest that ERK inhibition could be a useful therapeutic strategy.

TITLE: Endothelial ERK signaling controls lymphatic fate specification

View this article at: http://www.jci.org/articles/view/65416?key=201b874c7a54cc627c43

Original article posted on Medical News Today.
Articles not to be reproduced without permission of Medical News Today

Medical News Today publishes the latest health news and health videos for consumers and health professionals. It has a searchable archive of over 100,000 health news articles.

< back to medical news

For any corrections of factual information, or to contact the editors please use our feedback form.

Send your press releases to