Navigation Links
Mouse model provides a new tool for investigators of human developmental disorder
Date:4/20/2009

April 21, 2009, Cambridge, UK Wolf-Hirschhorn Syndrome (WHS) is a human disease caused by spontaneous genetic deletions. Children born with WHS have a characteristic set of facial features, including a wide flat nose bridge, downturned mouth, high forehead, and highly arched eyebrows. Other symptoms associated with this disease include heart defects, seizures, mental retardation, and skeletal abnormalities, and the severity of these symptoms varies between individual WHS patients.

While it was known that WHS is related to a genetic deletion in chromosome 4, the specific gene or genes affected were unknown. Now, a study by scientists at the European Molecular Biology Laboratory demonstrates that a gene called Fgfrl1 (Fibroblast growth factor receptor-like 1) plays a key role in WHS.

This report published in Disease Models & Mechanisms (DMM), dmm.biologists.org describes how they modify the Fgrfrl1 gene so that it loses function, then express the gene in mice. Fgfrl1 in humans is located on the short arm of chromosome 4 and mice born with the modified Fgfrl1 gene have a variety of physical features that are similar to characteristics seen in WHS patients. For example, the mice are born with heart defects due to thickening of the cardiac valves, and they have abnormal facial and skeletal structures compared to normal mice. The mutant mice also have deformities in throat cartilage structures, which may provide insight to the swallowing and speaking difficulties experienced by many WHS patients.

This mouse model of WHS provides a valuable new tool for researchers studying this developmental disorder. It provides a new avenue for molecular research through study of Fgrf1 function, but also allows scientists to understand how structural defects might contribute to WHS symptoms, as is the case in the heart defects and swallowing difficulties.

The report, "Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice" was written by Catarina Catela, Daniel Bilbao-Cortes, Esfir Slonimsky, Paschalis Kratsios, Nadia Rosenthal and Pascal te Welscher of the European Molecular Biology Laboratory in Monterotondo, Italy. The report is published in the May/June issue of Disease Models & Mechanisms (DMM), a research journal published by The Company of Biologists, a non-profit based in Cambridge, UK.


'/>"/>

Contact: Donna Perry
donna@biologists.com
44-012-234-33319
The Company of Biologists
Source:Eurekalert

Related biology news :

1. CSHL team develops mouse models of leukemia that predict response to chemotherapy
2. Brain building: Study shows brain growth tied to cell division in mouse embryos
3. A worm-and-mouse tale: B cells deserve more respect
4. Salk researchers develop novel glioblastoma mouse model
5. Peering inside the skull of a mouse to solve meningitis mystery
6. Multiple sclerosis research charges ahead with new mouse model of disease
7. Anti-cancer drug prevents, reverses cardiovascular damage in mouse model of premature aging disorder
8. Anything but modest: The mouse continues to contribute to humankind
9. Let the cat keep chasing the mouse
10. Mouse model developed at UT Southwestern mimics hyperglycemia, aids in diabetes research
11. Disabling mouse enzyme increases fertility
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/30/2017)... 2017 Today, American Trucking Associations announced ... face and eye tracking software, became the newest ... "Artificial intelligence and advanced sensing ... a driver,s attentiveness levels while on the road.  ... detect fatigue and prevent potential accidents, which could ...
(Date:5/23/2017)... robotic gym for the rehabilitation and functional motor sense evaluation of lower ... . The first 30 robots will be available from June in ... The technology was developed and patented at the IIT laboratories and has ... to a 10 million euro investment from entrepreneur Sergio Dompè. ... ...
(Date:5/6/2017)... , May 5, 2017 ... just announced a new breakthrough in biometric authentication ... exploits quantum mechanical properties to perform biometric authentication. These ... smart semiconductor material created by Ram Group and ... finance, entertainment, transportation, supply chains and security. Ram ...
Breaking Biology News(10 mins):
(Date:10/11/2017)... ... October 11, 2017 , ... ComplianceOnline’s Medical Device Summit ... 7th and 8th June 2018 in San Francisco, CA. The Summit brings together current ... several distinguished CEOs, board directors and government officials from around the world to address ...
(Date:10/11/2017)... (PRWEB) , ... October 11, 2017 , ... ... compared the implantation and pregnancy rates in frozen and fresh in vitro ... of progesterone and maternal age to IVF success. , After comparing the results ...
(Date:10/10/2017)... ... 2017 , ... Dr. Bob Harman, founder and CEO of VetStem Biopharma, ... The event entitled “Stem Cells and Their Regenerative Powers,” was held on ... DVM, MPVM was joined by two human doctors: Peter B. Hanson, M.D., Chief of ...
(Date:10/9/2017)... , Oct. 9, 2017  BioTech Holdings ... mechanism by which its ProCell stem cell therapy ... limb ischemia.  The Company, demonstrated that treatment with ... of limbs saved as compared to standard bone ... molecule HGF resulted in reduction of therapeutic effect.  ...
Breaking Biology Technology: