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:7/11/2014)... for Bone and Mineral Research awarded Michael F. Holick, ... with the 2014 Louis V. Avioli Award. Holick, a ... internationally known for revolutionizing the understanding of vitamin D ... award honors a member of the American Society for ... bone and mineral basic research. It is named for ...
(Date:7/11/2014)... the National Institute of Standards and Technology (NIST) ... more effectively, they often prove that necessity is ... case recently for M. Lorna De Leoz and ... specialization of glycomics. Glycomics is the study of ... are attached to proteins and lipids and influence ...
(Date:7/11/2014)... international team of researchers, including scientists from the Max ... a reported a major step in understanding photosynthesis, the ... maintains the oxygen in its atmosphere and which is ... earth. , The researchers report the first direct ... namely the step in which a specific protein complex, ...
Breaking Biology News(10 mins):BUSM's Michael F. Holick receives American Society for Bone and Mineral Research award 2A first direct glimpse of photosynthesis in action 2
... With fewer than a dozen flowering plants out of 300,000 ... need to tap unused plants to feed the world in ... in the Comment feature of the July 4 issue of ... and rising incomes around the world, researchers estimate that food ...
... of Toronto-based researchers may be one step closer to a ... research and therapy. Induced pluripotent stem cells (iPSCs) can ... flexibly develop into many different types of cells. However, producing ... generation are largely unknown. But researchers from the University ...
... A new study published today in the journal ... the Australian, Antarctic and Indian tectonic plates, demonstrating how ... Researchers from Royal Holloway University, The Australian National ... uncertainties on how the plates evolved and where they ...
Cached Biology News:To feed the future, we must mine the wealth of the world's seed banks today 2Toronto team ID proteins key in stem cell production 2
(Date:7/10/2014)... , July 10, 2014 /PRNewswire-iReach/ -- Tute ... interpretation, today announced an agreement with Lineagen, ... for Lineagen,s NextStep Dx PLUS.  Lineagen, ... and neurological disorders, currently offers FirstStep Dx ... testing service used by healthcare providers as ...
(Date:7/10/2014)... research may help in the fight against terrorism with ... quantities of explosives with the use of light and ... Sensors and Actuators B: Chemical , the researchers describe ... in concentrations as low as 6.3 ppm (parts per ... few minutes. , "Traditionally explosives detection has involved looking ...
(Date:7/10/2014)... Hall effect in bilayer graphene and shown that this ... electric field. , The fractional quantum Hall effect, ... are exposed to large magnetic fields, is a striking ... behave as a single system. However, while the basic ... of this collective behavior remain not well understood, in ...
(Date:7/10/2014)... study by researchers at the University of Illinois ... mechanisms governing the interplay of spin and heat ... of ultrafast spintronic devices for data storage and ... as well as spin-angular momentum. In a typical ... is no spin current," explained David Cahill, a ...
Breaking Biology Technology:Tute Genomics Platform Selected to Provide Clinical Interpretation for Lineagen's NextStepDx PLUS Next-Generation Sequencing-Based Diagnostic Test 2Tute Genomics Platform Selected to Provide Clinical Interpretation for Lineagen's NextStepDx PLUS Next-Generation Sequencing-Based Diagnostic Test 3Tute Genomics Platform Selected to Provide Clinical Interpretation for Lineagen's NextStepDx PLUS Next-Generation Sequencing-Based Diagnostic Test 4Detecting trace amounts of explosives with light 2Columbia researchers observe tunable quantum behavior in bilayer graphene 2Columbia researchers observe tunable quantum behavior in bilayer graphene 3University of Illinois study advances limits for ultrafast nano-devices 2
... East/Africa and Canada -, COLLEGEVILLE, Pa., June ... WYE ), announced today the,appointment of Andreas ... effective immediately. In this new role, Mr. Krebs ... Pharmaceuticals, and Senior Vice,President, Wyeth., Mr. Krebs ...
... to take a more proactive approach ... assessment of drug safety information, HYDERABAD, India ... Services Ltd. (NYSE: SAY ), a leading ... that it has,formed an alliance with Sciformix Corporation, ...
... Md., June 26 Pinnacle Biologics, a private,full ... it has entered into a preferred stock purchase ... acquired certain,unspecified number of preferred stock shares of ... not disclosed., Pinnacle Biologics owns the marketing ...
Cached Biology Technology:Satyam Forms Partnership with Sciformix to Provide Comprehensive Drug Safety Management 2Satyam Forms Partnership with Sciformix to Provide Comprehensive Drug Safety Management 3Satyam Forms Partnership with Sciformix to Provide Comprehensive Drug Safety Management 4