Navigation Links
Stowers Institute researchers identify gene linked to vertebral defects in patient populations
Date:5/15/2008

Stowers Institute researchers Karen Staehling-Hampton, Ph.D., Managing Director of Molecular Biology, and Olivier Pourqui, Ph.D., Investigator, collaborated with colleagues from around the world to show that genes known to cause spinal mutations in chick and mouse model systems also play an important role in human patients with congenital vertebral abnormalities.

The discovery was published today on the Web site of the American Journal of Human Genetics.

Working with samples from 31 patients at Boston Childrens Hospital with various congenital vertebral defects, the team sequenced five genes thought to be involved in the malformations. In a patient of Puerto Rican descent, the team discovered a mutation in the MESP2 gene a mutation that completely disrupted the function of the gene.

The affected patient had Spondylothoracic Dysostosis, also known as Jarcho-Levin Syndrome. Spondylothoracic Dysostosis is a rare genetic disorder characterized by distinctive malformations of the vertebrae and ribs, respiratory problems, and other abnormalities. Infants born with Spondylothoracic Dysostosis have short necks, limited neck motion, and are short in stature. Spondylothoracic Dysostosis is prevalent in the Puerto Rican population.

Sequencing of samples from additional Spondylothoracic Dysostosis patients of Puerto Rican descent demonstrated the same mutation in the MESP2 gene.

Spondylothoracic Dysostosis was first characterized in the Puerto Rican population 70 years ago, said Dr. Staehling-Hampton, co-equal first author on the paper, but the gene mutation causing the condition was not isolated until now. The MESP2 mutation can be detected by a simple assay, so identification of this mutation will allow people who have a family history of Spondylothoracic Dysostosis to determine if they carry the mutation and whether they are at risk of passing the disorder on to future generations.

After working for many years to study spinal formation in chicks and mice, it is rewarding to expand our investigation to clinical applications, said Dr. Pourqui, senior author on the publication. We will continue to work with colleagues to collect more samples from patients with congenital vertebral abnormalities and sequence more genes to look for causative mutations. Additionally, we will sequence MESP2 in a larger collection of DNA samples from Puerto Rico to determine the carrier frequency of this MESP2 mutation in the general Puerto Rican population.


'/>"/>

Contact: Marie Jennings
mfj@stowers-institute.org
816-926-4015
Stowers Institute for Medical Research
Source:Eurekalert

Related biology news :

1. Stowers Proteomics Center devises method for assigning probabilities to human protein interactions
2. Stowers Institutes Hawley Lab identifies factors responsible for restart of meiotic cycle
3. Stowers Institutes Xie Lab demonstrates dual intrinsic and extrinsic control of stem cell aging
4. Brown opens institute for molecular and nanoscale innovation
5. Beijing Genomics Institute adds AB SOLiD system to its next generation sequencing technologies
6. Autism Speaks collaborates on grant with the Allen Institute for Brain Science and autism expert
7. Pew Institute teams with Chantecaille Cosmetics to protect global marine life
8. Mechanisms of plant-fungi symbiosis characterized by DOE Joint Genome Institute
9. Pew Institute for Ocean Science awards 5 fellowships in support of global marine conservation
10. Lupus Research Institute strategy delivers $30 million in national funding
11. Baker Institute finds increased domestic production wont make US self-sufficient in natural gas
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/21/2016)... Columbia , June 21, 2016 ... to the new role of principal product architect ... named the director of customer development. Both will ... chief technical officer. The moves reflect NuData,s strategic ... in response to high customer demand and customer ...
(Date:6/9/2016)... Paris Police Prefecture and ... ensure the safety of people and operations in several locations ... Teleste, an international technology group specialised in broadband ... its video security solution will be utilised by ... across the country. The system roll-out is scheduled for the ...
(Date:6/2/2016)... , June 2, 2016 Perimeter ... Platforms, Unmanned Systems, Physical Infrastructure, Support & Other Service  ... visiongain offers comprehensive analysis of the global ... market will generate revenues of $17.98 billion in 2016. ... DVTEL Inc, a leader in software and hardware technologies ...
Breaking Biology News(10 mins):
(Date:6/23/2016)... ... , ... Supplyframe, the Industry Network for electronics hardware design ... Located in Pasadena, Calif., the Design Lab’s mission is to bring together inventors ... and brought to market. , The Design Lab is Supplyframe’s physical representation of ...
(Date:6/23/2016)... Andrew D Zelenetz ... Published recently in Oncology ... touchONCOLOGY, Andrew D Zelenetz , discusses the ... is placing an increasing burden on healthcare systems ... With the patents on many biologics expiring, interest ...
(Date:6/23/2016)... FRANCISCO , June 22, 2016  Amgen (NASDAQ: ... sponsorship of the QB3@953 life sciences incubator ... human health. The shared laboratory space at QB3@953 was ... overcome a key obstacle for many early stage organizations ... part of the sponsorship, Amgen launched two "Amgen Golden ...
(Date:6/22/2016)... June 22, 2016   StockNewsNow.com , The Official ... with Dr. Nader Pourhassan , President & CEO ... on the clinical development and potential commercialization of humanized ... infection, according to the company,s website (see here: ... June 7 th , 2016, at the LD Micro ...
Breaking Biology Technology: