Navigation Links
Research of cell movements in developing frogs reveals new twists in human genetic disease

AUSTIN, TexasMutations in a gene known as "Fritz" may be responsible for causing human genetic disorders such as Bardet-Biedl syndrome, University of Texas at Austin developmental biologist John Wallingford and Duke University human geneticist and cell biologist Nicholas Katsanis have found.

Their results are published online in this week's edition of Science.

Bardet-Biedl syndrome, and its related Meckel-Gruber syndrome, are two rare but well-studied disorders that result in conditions such as mental retardation, obesity, blindness and kidney failure. This is the first study implicating Fritz's role in human disorders, and the first study of the gene in vertebrates.

Wallingford found that the gene plays a role in two processes in developing embryosfirst, the collective movement of cells as they mold the shape of developing embryos, and second, the creation of cilia, which are projections from cells that serve as sensory antennae.

The Fritz gene regulates these processes by controlling molecules called septins. Septins provide structural support to cell membranes much like metal struts support an umbrella.

Wallingford and his team were pointed toward the role of Fritz in controlling septins by watching time-lapse videos of developing frog embryos with and without the gene.

"Normally, movement of the cell membrane is smooth in developing embryos," said Wallingford, associate professor of biology, "but those embryos without Fritz had cell membranes that were waving and jostling around. Septins basically make a coat across the plasma membrane and stabilize it. Because the membranes looked floppy, the septins are one of the things we looked at."

Lack of the Fritz gene manifested in several ways in the developing embryo. In early stages, embryos had problems associated with collective cell movement and growing longer. That resulted in a number of morphological problems such as defects in the neural tube.

Later stage embryos showed cranio-facial malformations similar to those seen in Meckel-Gruber patients. Those deformities were likely caused by malfunctions in cilia.

"This suggests that septins are being deployed in different ways in these different cell types," said Wallingford.

Armed with the information from the Wallingford lab, Katsanis and his group then discovered that patients with Bardet-Biedl and Meckel-Gruber syndromes have mutations in the Fritz gene.

"This result obviously furthers our understanding of these syndromes," said Katsanis. "Perhaps more important, however, we now have both hard evidence for previous suspicions and a brand new set of mechanistic underpinning for ciliary dysfunction in people".

Ultimately, these findings shed light on the mechanisms by which fundamental cellular machinery is regulated during embryonic development and is related to human disease.

"This is a good example of studying basic cellular biology that leads to insights in human diseases," said Wallingford. "If we just think about the way basic biology links in with humans, there's the ability to make that leap. We will discover things about human diseases even when we are trying to study frog development."

Katsanis concurs: "This work is such an elegant example of the progress that can be achieved, and quickly, when scientific disciplines intermesh."


Contact: John Wallingford
University of Texas at Austin

Related biology news :

1. Case Western Reserve awarded $4.7 million from Defense Advanced Research Projects Agency
2. Carnegie Mellon researchers create fluorescent biosensor to aid in drug development
3. Scripps research study opens the door to new class of drugs for epileptic seizures
4. Middle school students co-author research on enzyme for activating promising disease-fighters
5. Most panda habitat is outside nature reserves according to joint MSU-Chinese research
6. Best hope for saving Arctic sea ice is cutting soot emissions, says Stanford researcher
7. Ben-Gurion University of the Negev researchers identify risks of hypertension in young adults
8. New book describes career opportunities in clinical research and how to qualify for them
9. Undergrad engineers research everything from water quality to wildfires this summer
10. Scripps research study shows infectious prions can arise spontaneously in normal brain tissue
11. U of G research reveals how monarchs fly away home
Post Your Comments:
(Date:11/9/2015)... DUBLIN , Nov. 09, 2015 /PRNewswire/ ... announced the addition of the "Global ... to their offering. --> ... "Global Law Enforcement Biometrics Market 2015-2019" ... Research and Markets ( ) ...
(Date:11/4/2015)... York , November 4, 2015 ... a new market report published by Transparency Market Research "Home ... Growth, Trends and Forecast 2015 - 2022", the global home ... US$ 30.3 bn by 2022. The market is estimated ... forecast period from 2015 to 2022. Rising security needs ...
(Date:10/29/2015)... --  MedNet Solutions , an innovative SaaS-based eClinical technology ... is pleased to announce that it has been selected ... of only three finalists for a 2015 Tekne ... category. The Tekne Awards honor Minnesota ... and leadership. iMedNet™ eClinical  technology ...
Breaking Biology News(10 mins):
(Date:11/24/2015)... , Nov. 24, 2015 /PRNewswire/ - Aeterna Zentaris Inc. ... IIROC on behalf of the Toronto Stock Exchange, confirms ... there are no corporate developments that would cause the ... --> --> About Aeterna Zentaris ... . --> Aeterna Zentaris is a specialty ...
(Date:11/24/2015)... ... November 24, 2015 , ... The Academy of Model Aeronautics (AMA), led by ... known as Multirotor Grand Prix, to represent the First–Person View (FPV) racing community. , ... have embraced this type of racing and several new model aviation pilots have joined ...
(Date:11/24/2015)... CITY , Nov. 24, 2015 /PRNewswire/ - ... "Company") announced today that the remaining 11,000 post-share ... Share Purchase Warrants (the "Series B Warrants") subject ... were exercised on November 23, 2015, which will ... Shares.  After giving effect to the issuance of ...
(Date:11/24/2015)... ... 24, 2015 , ... Creation Technologies would like to extend ... 2015 Technology Fast 500 list of the fastest growing companies in North America. ... medical device that speeds up orthodontic tooth movement by as much as 50 ...
Breaking Biology Technology: