Navigation Links
Clue to genetic cause of fatal birth defect
Date:10/9/2008

omes dependent on the biosynthesis of its own cholesterol once this blood-brain barrier forms, at day 10 of gestation.

The UIC researchers established that in the fetus, the brain is the most important site for HSD17b7 expression and provided evidence that anencephaly may result from the loss of this enzyme.

"Creating a knockout mouse is a very laborious process," said Aurora Shehu, first author of the paper and at that time a graduate student in Gibori's laboratory. Mice with only one copy of the gene are produced and then interbred; one in four of their offspring should have no copy of the gene -- a "null" mouse.

"We expected null mice to be born and to be infertile, however, no null mice were born," said Shehu. "I was afraid I had made a mistake, and went back to the beginning, repeating the entire process, but still no null mice were born."

Shehu then began more painstaking work, performing in-utero genetic testing on entire litters -- often 10 to 12 fetuses per litter. She found that the null mice were there, but they were dying at day 10 of gestation, when the blood-brain barrier develops.

Gibori says the gene that is missing or defective in human anencephaly is not yet known, but the discovery that the deletion of HSD17b7 in the mouse causes anencephaly suggests this gene may be awry in the human disease.

"This opens up very exciting possibilities for understanding human anencephaly, and, perhaps, someday being able to provide a genetic test for the condition early in pregnancy -- and ultimately a therapy," she said.

As their next step, Gibori's lab plans to test human anencephalic tissue for a mutation in the HSD17b7 gene.


'/>"/>

Contact: Jeanne Galatzer-Levy
jgala@uic.edu
312-996-1583
University of Illinois at Chicago
Source:Eurekalert

Page: 1 2

Related biology news :

1. American College of Medical Genetics receives $13.5M NIH contract
2. Genetic finding implicates innate immune system in major cause of blindness
3. Study finds genetic variant plays role in cleft lip
4. Genetic Engineering & Biotechnology News reports on growing role of molecular diagnostics
5. Rare genetic disorder gives clues to autism, epilepsy, mental retardation
6. Childrens Hospital researchers identify genetic mutation that may predict organ rejection
7. K-State professors USDA research shows mad cow disease also caused by genetic mutation
8. How do race, genetics and health-care disparities affect spread of HIV?
9. Exploding chromosomes fuel research about evolution of genetic storage
10. Genetics reveals big fish that almost got away
11. Scientists discover major genetic cause of colorectal cancer
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/31/2014)... By tracing nearly 3,000 genes to the earliest ... Florida scientists have created an extensive "Tree of ... next-generation DNA sequencing. , Among the study,s ... to small moths than to large ones, which ... The study also found that some insects once ...
(Date:7/31/2014)... the roughly 156,000 gas stations across the United ... of underground gas storage tankscorrosion that could result ... source of drinking water. In recent years, field ... corroding gas storage tank components such as sump ... of gasoline-ethanol blends and the presence of bacteria, ...
(Date:7/31/2014)... people make a rational choice to be liberal or ... it a matter of genetics?, Two political scientists from ... University say that neither conscious decision-making nor parental upbringing ... lean right. , A growing body of evidence shows ... core of political differences, the researchers say in the ...
Breaking Biology News(10 mins):UF study advances 'DNA revolution,' tells butterflies' evolutionary history 2UF study advances 'DNA revolution,' tells butterflies' evolutionary history 3NIST corrosion lab tests suggest need for underground gas tank retrofits 2Scientists find growing consensus: Political attitudes derive from body and mind 2
... reefs in the Indo-Pacific region, including the Great Barrier ... counterparts, leading marine scientists said today. Dr George ... of Excellence for Coral Reef Studies and The University ... in Cairns that coral reefs in the Indo-Pacific Ocean ...
... centuries, people made wine by stomping grapes with their bare feet. ... University of British Columbia,s Wine Research Centre. , Have you ever ... wine? Has one glass of Merlot or Shiraz resulted in a ... percent of people who are allergic to compounds that are in ...
... group at the Smithsonian Tropical Research Institute in Panama ... Florida Museum of Natural History discovered a new species ... in what is now northwestern South America. The team,s ... new turtle species is named Puentemys mushaisaensis because it ...
Cached Biology News:Our coral reefs: In trouble - but tougher than we thought 2Winemaking goes high-tech at the University of British Columbia 2
(Date:7/31/2014)... 2014 Today BioSpace , the leading life sciences employment ... spotlighting the life sciences community in Illinois , ... , Michigan , Minnesota , ... Ohio and Wisconsin . BioMidwest ... all job postings on BioSpace originating in this region in 2013. The ...
(Date:7/31/2014)... to see through organs and even the entire body ... fine-grained cellular structures has been a long-time dream of ... July 31st in the journal Cell has ... for making opaque organs, bodies, and human tissue biopsies ... The protocols could pave the way for a better ...
(Date:7/31/2014)... New York , July 31, 2014 ... by Transparency Market Research "Quantum Dots Market - Global ... - 2023," the market was valued at USD 88.5 ... 8,246.8 million by 2023, growing at a CAGR of ... full Quantum Dots Market Report at  http://www.transparencymarketresearch.com/quantum-dots.html ...
(Date:7/31/2014)... 2014 According to a new ... Medical Devices Market (Diagnostic Electrodes - ECG, EEG, EMG, ... Pacemakers, Defibrillators, Electrosurgical and Other Electrodes) - Global Industry ... 2019," the global electrodes market for medical devices was ... estimated to reach a market worth USD 1,451.2 million ...
Breaking Biology Technology:Midwest Biotech Leaders Featured On BioSpace Map 2See-through organs and bodies will accelerate biomedical discoveries 2Global Quantum Dots Market is Expected to Reach USD 8,246.8 Million in 2023: Transparency Market Research 2Global Quantum Dots Market is Expected to Reach USD 8,246.8 Million in 2023: Transparency Market Research 3Global Quantum Dots Market is Expected to Reach USD 8,246.8 Million in 2023: Transparency Market Research 4Electrodes for Medical Devices Market Expected to Reach USD 1.45 Billion Globally in 2019: Transparency Market Research 2Electrodes for Medical Devices Market Expected to Reach USD 1.45 Billion Globally in 2019: Transparency Market Research 3Electrodes for Medical Devices Market Expected to Reach USD 1.45 Billion Globally in 2019: Transparency Market Research 4Electrodes for Medical Devices Market Expected to Reach USD 1.45 Billion Globally in 2019: Transparency Market Research 5Electrodes for Medical Devices Market Expected to Reach USD 1.45 Billion Globally in 2019: Transparency Market Research 6
... 17 /PRNewswire/ - Norgen Biotek, an innovative Canadian ... for nucleic acids and protein purification, today announced ... A/S (NASDAQ OMX Copenhagen: "EXQ") to supply RNA ... Exiqon A/S is a Denmark-based company active in ...
... The pro bono healthcare injury prevention website ... that its newly instituted Safe Lifting Leadership Award ... of La Crosse, Wisconsin. The award was given ... safe patient handling, safe lifting, and caregiver injury ...
... Scheduled for Thursday, March 19, 2009 at 11:00 AM ... Milestone Scientific Inc. (OTC Bulletin Board: MLSS), ... that it intends to file its 2008 year-end results ... the U.S. Securities & Exchange Commission on Tuesday, March ...
Cached Biology Technology:Norgen Biotek Corp. Announces OEM Manufacturing & Supply Agreement with Exiqon A/S 2Norgen Biotek Corp. Announces OEM Manufacturing & Supply Agreement with Exiqon A/S 3Norgen Biotek Corp. Announces OEM Manufacturing & Supply Agreement with Exiqon A/S 4Gundersen Lutheran Health System is Recognized for Safe Lifting Leadership 2Gundersen Lutheran Health System is Recognized for Safe Lifting Leadership 3Milestone Scientific to Report 2008 Year-End Results on Tuesday, March 17, 2009 2Milestone Scientific to Report 2008 Year-End Results on Tuesday, March 17, 2009 3
...
Mouse monoclonal antibody raised against a partial recombinant ZNF155. NCBI Entrez Gene ID = ZNF155...
... Bio-Beads SM-2 adsorbents are macroporous polystyrene beads ... high surface area for adsorbing organics of ... solutions. The beads are useful for the ... agents; for example, the removal of detergents ...
... Anti-Mi-2 Immunogen : Fusion ... residues 474-970 of human Mi-2 ... 0.105M NaCl, 0.035% sodium azide, ... routinely evaluated by immunoblot on ...
Biology Products: