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:4/11/2017)... , Apr. 11, 2017 Research and ... Market 2017-2021" report to their offering. ... The global eye tracking market to grow at a ... report, Global Eye Tracking Market 2017-2021, has been prepared based on ... covers the market landscape and its growth prospects over the coming ...
(Date:4/11/2017)... Florida , April 11, 2017 ... a security technology company, announces the appointment of independent Directors ... Bendheim to its Board of Directors, furthering the company,s ... ... of NXT-ID, we look forward to their guidance and benefiting ...
(Date:4/5/2017)... , April 5, 2017  The Allen Institute for ... Cell Explorer: a one-of-a-kind portal and dynamic digital window ... imaging data, the first application of deep learning to ... stem cell lines and a growing suite of powerful ... for these and future publicly available resources created and ...
Breaking Biology News(10 mins):
(Date:8/15/2017)... ... August 15, 2017 , ... Pittcon is pleased to ... and scientific instruments. This year’s symposium, organized by the Pittcon 2018 program chair, ... Bioanalytical Applications.” This dynamic presentation will discuss novel ionization processes, high throughput IMS-MS ...
(Date:8/15/2017)... ... August 15, 2017 , ... Coffea arabica accounts for 70 ... factors. During this educational webinar, participants will learn about the importance of genomics ... better understanding of how genomics is important for coffee breeding improvement. , Attendees ...
(Date:8/14/2017)... NY (PRWEB) , ... August 14, 2017 , ... ... Clinical Trials event, which will take place on September 6, 2017 at the ... Karlin, MD , Head of Experimental Medicine, Informatics, and Regulatory Strategy, Pfizer Innovative Research ...
(Date:8/11/2017)... Wauwatosa, WI (PRWEB) , ... August 11, 2017 ... ... transparency in food production, and, in particular, more natural alternatives to synthetic ingredients,” ... and innovation of Third Wave, with the established manufacturing presence and know-how of ...
Breaking Biology Technology: