New insight into RASopathy-associated lymphatic defects

February 8, 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 that expressed mutations associated with a RASopathy known as .

In this issue of the , 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.

More information: Endothelial ERK signaling controls lymphatic fate specification, Journal of Clinical Investigation, doi:10.1172/JCI63034

Related Stories

Combination therapies for drug-resistant cancers

October 10, 2011

Some cancers can be effectively treated with drugs inhibiting proteins known as receptor tyrosine kinases, but not those cancers caused by mutations in the KRAS gene. A team of researchers led by Jeffrey Engelman, at Massachusetts ...

Recommended for you

Experimental MERS vaccine shows promise in animal studies

July 28, 2015

A two-step regimen of experimental vaccines against Middle East respiratory syndrome (MERS) prompted immune responses in mice and rhesus macaques, report National Institutes of Health scientists who designed the vaccines. ...

Can social isolation fuel epidemics?

July 21, 2015

Conventional wisdom has it that the more people stay within their own social groups and avoid others, the less likely it is small disease outbreaks turn into full-blown epidemics. But the conventional wisdom is wrong, according ...

Lack of knowledge on animal disease leaves humans at risk

July 20, 2015

Researchers from the University of Sydney have painted the most detailed picture to date of major infectious diseases shared between wildlife and livestock, and found a huge gap in knowledge about diseases which could spread ...

IBD genetically similar in Europeans and non-Europeans

July 20, 2015

The first genetic study of inflammatory bowel disease (IBD) to include individuals from diverse populations has shown that the regions of the genome underlying the disease are consistent around the world. This study, conducted ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.