Navigation Links
Research of cell movements in developing frogs reveals new twists in human genetic disease
Date:7/30/2010

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
wallingford@mail.utexas.edu
University of Texas at Austin
Source:Eurekalert

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:
*Name:
*Comment:
*Email:
(Date:2/8/2016)... February 8, 2016 Worldcore ... which presents innovation for clients, comfort and unbeatable ... VoiceKey. --> Worldcore is the ... for clients, comfort and unbeatable security, with a ... Worldcore is the first EU-regulated ...
(Date:2/3/2016)... , February 4, 2016 --> ... to SEK 1,351.5 M (105.0), up 1,187% compared with fourth quarter of ... amounted to SEK 517.6 M (loss: 30.0). Earnings per share ... activities was SEK 537.4 M (neg: 74.7). , ... , Revenues amounted to SEK 2,900.5 M (233.6), up 1,142% compared with ...
(Date:2/3/2016)... http://www.researchandmarkets.com/research/d8zjcd/emotion_detection ) ... "Emotion Detection and Recognition Market by Technology ... Tools (Facial Expression, Voice Recognition and Others), ... Global forecast to 2020" report to ... ) has announced the addition of the ...
Breaking Biology News(10 mins):
(Date:2/10/2016)... FL (PRWEB) , ... February 10, 2016 , ... ... in regenerative medicine, has announced a new agreement with Singapore-based Global Stem Cells ... physicians from the Philippines, Thailand and Singapore in the latest adipose and bone ...
(Date:2/9/2016)... ... 2016 , ... Date and time: March 1, 2016, 5:30 ... Biotechnology Center of Bucks County, 3805 Old Easton Road, Doylestown, PA 18902. , ... an open house for participants to learn about a new Master of Biomedical ...
(Date:2/9/2016)... ... February 09, 2016 , ... The publishing industry has ... publishing is one of the popular publication models that has received wider acknowledgement ... and 3000+ International Conferences across the globe, OMICS International is all ...
(Date:2/9/2016)... 9, 2016 Three-Year Initiative Supports Next ... Take Part in Life-Changing Camp Experiences ... to positively affect the lives of children born with rare diseases, ... SHPG ) is announcing a new initiative designed to positively ... as the future of rare disease care. --> To ...
Breaking Biology Technology: