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:4/28/2016)... Sweden , April 28, 2016 First ... M (139.9), up 966% compared with the first quarter of 2015 ... profit totaled SEK 589.1 M (loss: 18.8) and the operating margin ... 7.12 (loss: 0.32) Cash flow from operations was SEK ... The 2016 revenue guidance is unchanged, SEK 7,000-8,500 M. ...
(Date:4/15/2016)... 15, 2016  A new partnership announced today ... underwriting decisions in a fraction of the time ... and high-value life insurance policies to consumers without ... With Force Diagnostics, rapid testing (A1C, Cotinine and ... (blood pressure, weight, pulse, BMI, and activity data) ...
(Date:3/31/2016)...   LegacyXChange, Inc. ... LegacyXChange is excited to release its first ... be launched online site for trading 100% guaranteed authentic ... also provide potential shareholders a sense of the value ... industry that is notorious for fraud. The video is ...
Breaking Biology News(10 mins):
(Date:6/24/2016)... ... June 24, 2016 , ... While the majority of commercial spectrophotometers and ... and the 6000i models are higher end machines that use the more unconventional z-dimension ... light beam from the bottom of the cuvette holder. , FireflySci has developed ...
(Date:6/23/2016)... , June 23, 2016 /PRNewswire/ - FACIT ... Ontario biotechnology company, Propellon Therapeutics ... development and commercialization of a portfolio of first-in-class ... Epigenetic targets such as WDR5 represent an exciting ... significantly in precision medicine for cancer patients. Substantial ...
(Date:6/23/2016)... 23, 2016  The Biodesign Challenge (BDC), a university ... to harness living systems and biotechnology, announced its winning ... New York City . ... showcased projects at MoMA,s Celeste Bartos Theater during the ... MoMA,s senior curator of architecture and design, and ...
(Date:6/23/2016)... Apellis Pharmaceuticals, Inc. today announced positive ... its complement C3 inhibitor, APL-2. The trials were ... studies designed to assess the safety, tolerability, pharmacokinetics ... healthy adult volunteers. Forty subjects were ... dose (ranging from 45 to 1,440mg) or repeated ...
Breaking Biology Technology: