Researchers identify mechanism for Frank-Ter Haar syndrome

Feb 16, 2010

An international team of investigators at Sanford-Burnham Medical Research Institute (Sanford-Burnham, formerly Burnham Institute for Medical Research), Nijmegen Centre for Molecular Life Sciences and other organizations have discovered that TKS4, a protein implicated in cancer metastasis, also plays a significant role in Frank-Ter Haar syndrome (FTHS), a rare fatal disorder. The research was published on February 12 in the American Journal of Human Genetics.

Children with FTHS suffer from skeletal, cardiovascular and eye abnormalities and usually die in infancy or early childhood. Hans von Bokhoven, Ph.D., at Nijmegen, with assistance from clinical colleagues in several different countries, studied 12 families who had been affected by FTHS. The team mapped the condition in 7 of these families to a mutated SH3PXD2B gene, which normally contains the code to create the TKS4 . Dr. von Bokhoven then began collaborating with Sara A. Courtneidge, Ph.D., at Sanford-Burnham, who had been studying the relationship between TKS4 and invadopodia, cellular protrusions that facilitate cancer cell migration and invasion. The Courtneidge group, together with Sanford-Burnham researchers José Luis Millán, Ph.D., and Pilar Ruiz-Lozano, Ph.D., and researchers at University of California, San Diego, determined that mice without TKS4 showed virtually identical traits to FTHS patients, confirming the results of the gene mapping. Interestingly, one FTHS family with a normal SH3PXD2B gene was nevertheless deficient in TKS4, indicating a consistent mechanism for the disease.

"This research illustrates the importance of collaboration in the scientific discovery process, and how the study of one disease, in this case cancer, can have a profound impact on the understanding on another." said Dr. Courtneidge, "In the future, we hope to use our mouse model to study the disease in more depth, as well as to determine whether other genes involved in invadopodia formation are also associated with FTHS."

Explore further: First genetic link discovered to difficult-to-diagnose breast cancer sub-type

Provided by Sanford-Burnham Medical Research Institute

not rated yet
add to favorites email to friend print save as pdf

Related Stories

Reactive oxygen's role in metastasis

Sep 16, 2009

Researchers at the Burnham Institute for Medical Research have discovered that reactive oxygen species, such as superoxide and hydrogen peroxide, play a key role in forming invadopodia, cellular protrusions implicated in ...

Stem cell research uncovers mechanism for type 2 diabetes

Feb 12, 2009

Taking clues from their stem cell research, investigators at the University of California San Diego (UC San Diego) and Burnham Institute for Medical Research (Burnham) have discovered that a signaling pathway involved in ...

New insights into limb formation

Aug 12, 2009

Investigators at Burnham Institute for Medical Research (Burnham) and the University of Connecticut Health Center (U.C.H.C.) have gained new understanding of the role hyaluronic acid (HA) plays in skeletal growth, chondrocyte ...

Progress toward new therapies for coronary artery disease

Nov 08, 2007

Coronary artery disease is a leading cause of mortality in Western countries. It cannot be cured. Recent research, led by Pilar Ruiz-Lozano, Ph.D., at the Burnham Institute for Medical Research, may lead to new therapies ...

'Bridge' protein spurs deadliest stages of breast cancer

Feb 22, 2007

A protein known for its ability to "bridge" interactions between other cellular proteins may spur metastasis in breast cancer, the disease’s deadliest stage, a study from Burnham Institute for Medical Research has found.

Recommended for you

Refining the language for chromosomes

15 hours ago

When talking about genetic abnormalities at the DNA level that occur when chromosomes swap, delete or add parts, there is an evolving communication gap both in the science and medical worlds, leading to inconsistencies in ...

Down's chromosome cause genome-wide disruption

Apr 16, 2014

The extra copy of Chromosome 21 that causes Down's syndrome throws a spanner into the workings of all the other chromosomes as well, said a study published Wednesday that surprised its authors.

User comments : 0

More news stories

Turning off depression in the brain

Scientists have traced vulnerability to depression-like behaviors in mice to out-of-balance electrical activity inside neurons of the brain's reward circuit and experimentally reversed it – but there's ...

Scientists tether lionfish to Cayman reefs

Research done by U.S. scientists in the Cayman Islands suggests that native predators can be trained to gobble up invasive lionfish that colonize regional reefs and voraciously prey on juvenile marine creatures.

White House updating online privacy policy

A new Obama administration privacy policy out Friday explains how the government will gather the user data of online visitors to WhiteHouse.gov, mobile apps and social media sites. It also clarifies that ...

Six Nepalese dead, six missing in Everest avalanche

At least six Nepalese climbing guides have been killed and six others are missing after an avalanche struck Mount Everest early Friday in one of the deadliest accidents on the world's highest peak, officials ...