Mutations common to cancer and developmental disorder examined in a novel disease model

Dec 22, 2008

New research sheds light on a common link between tumor formation and Costello Syndrome, an inherited developmental disorder in which patients have cardiac defects, mild mental retardation, and face-shape abnormalities. The study published in the journal Disease Models & Mechanisms (DMM), dmm.biologists.org uses a zebrafish model to help explain a puzzling connection between Costello syndrome and cancer.

Costello Syndrome is one of several developmental disorders caused by mutations in a gene known as H-RAS. Additionally, mutations in H-RAS and the Ras family of genes are common in most human cancers. Thus, scientists are trying to determine how genetic mutations that activate H-RAS can cause a congenital illness as well as cancer . In this new study, Cristina Santoriello and colleagues investigate this mystery by expressing activated H-RAS in zebrafish, which are often used to study the developmental process. They found that the effect of mutant H-RAS in part depends on the timing and level of gene expression. Higher levels of H-RAS caused overabundant cell-growth, reminiscent of tumors. Furthermore, zebrafish expressing mutant H-RAS through development displayed hallmarks of the human Costello Syndrome, such as reduced body size, heart defects, and physical deformities.

This new model of Costello Syndrome can be used to learn more about this disease, particularly in regard to symptoms that worsen with age. Additionally, using this model to examine the developmental processes that control cancerous mutant H-RAS effects can potentially lead to novel cancer therapies.

Journal: dmm.biologists.org/

Source: The Company of Biologists

Explore further: Breast cancer survivors may have higher thyroid cancer risk

add to favorites email to friend print save as pdf

Related Stories

Hundreds of starving koalas killed in Australia

57 minutes ago

Close to 700 koalas have been killed off by authorities in southeastern Australia because overpopulation led to the animals starving, an official said Wednesday, sparking claims of mismanagement.

Italy adopts plans to shift into Internet fast lane

1 hour ago

Italy's government adopted a six-billion-euro plan Tuesday to modernise its Internet network and improve access to broadband in hopes of shedding its reputation as one of Europe's online laggards.

Recommended for you

User comments : 0

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.