Navigation Links
Researchers restore missing protein in rare genetic brain disorder
Date:9/6/2009

r loss of one copy of the LIS1 gene and affects an estimated one in 50,000-100,000 infants.

In 1998, the team published a paper on work that Hirotsune did in the Wynshaw-Boris laboratory, in which he produced a mouse with the same mutation that displayed defective brain development. They have continued to collaborate on understanding the mechanism of action of LIS1 since Hirotsune set up his independent laboratory in Japan.

The current research found, using these mice, that the protein calpain degrades the LIS1 protein to less than half its normal levels near the surface of the cells. The team then used a specific small-molecule protease inhibitor of calpain in these mice. At a cellular level, the protease inhibitors enabled LIS1 protein to be expressed at near-normal levels.

The team then gave daily injections of a calpain inhibitor to pregnant mice whose fetuses had the mouse-model of this defect. The resulting offspring had more normal brains and showed no sign of mental retardation.

"This study is really a proof-of-principle not only for treating complex developmental brain disorders, but also for any disorder with reduced protein levels where proteases normally play some role in breaking down that protein," Hirotsune said. "This will be much more difficult to apply to humans, because of the safety issues involved, but it could lead to new therapies that might be effective for a wide range of developmental disorders."

Scientists have known that loss of one of the two copies of the human form of the gene, known as LIS1, prevents immature nerve cells from migrating from deep in the brain up to the surface of the emerging cerebral cortex.

As a result, these immature cells stall at mid-point in their migration, causing the brain to develop a smooth surface, devoid of the convoluted nerve tissue that enables humans to think and function. The resulting disease, lissencephaly, varies in severity, but always leads to
'/>"/>

Contact: Kristen Bole
kbole@pubaff.ucsf.edu
415-476-2557
University of California - San Francisco
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. Researchers identify proteins involved in new neurodegenerative syndrome
2. Texas researchers and educators head for Antarctica
3. MGH researchers describe new way to identify, evolve novel enzymes
4. University of Pennsylvania researchers develop formula to gauge risk of disease clusters
5. U of MN researchers discover noninvasive diagnostic tool for brain diseases
6. U of Minnesota researchers discover noninvasive diagnostic tool for brain diseases
7. Researchers discover new strategies for antibiotic resistance
8. Researchers find new taste in fruit flies: carbonated water
9. Binghamton University researchers investigate evolving malaria resistance
10. UIC researchers find promising new targets for antibiotics
11. Researchers develop simple method to create natural drug products
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:3/23/2015)... 23, 2015  In the 2014 fiscal year, irs.gov ... losses. This figure accounts for a fraction of the ... Nilson Report, exceeds $11 billion globally. The polygraph has ... crime has occurred. Investor Mark Saint Juste ... Joe Paolella partnered to administer the test in ...
(Date:3/20/2015)... March 20, 2015 NXT-ID, Inc. (NASDAQ: ... company focused on the growing mobile commerce market, announces ... one of the products featured in 2015 "I Want ... 11:00 PM EST on the DIY Network.   ... Las Vegas , site of the 2015 International ...
(Date:3/17/2015)... 17, 2015 MedNet Solutions , ... clinical study management systems, is pleased to announce ... ARENA,s Outsourcing in Clinical Trials Southeast conference – ... an excellent forum for MedNet to showcase ... software-as-a-service (SaaS) eClinical technology platform. We ...
Breaking Biology News(10 mins):Polygraph Test Now Used to Protect Investors From Fraud 2Polygraph Test Now Used to Protect Investors From Fraud 3NXT-ID's Wocket Biometric Smart Wallet to Air on "I Want That" International CES Special 2NXT-ID's Wocket Biometric Smart Wallet to Air on "I Want That" International CES Special 3Connect With MedNet Solutions At Outsourcing In Clinical Trials Southeast 2
... The Quaking gene, first described as a mutation in ... tumor formation and protect humans from cancer. , ... the University of Wisconsin has shown that the Quaking ... a protein associated with GLI1, a cancer-causing oncogene highly ...
... Research Center at Oregon Health & Science University (OHSU) ... how stem cells become various kinds of brain cells. ... Parkinson's disease, brain and spinal cord injury, and other ... lost or damaged brain cells. The research is published ...
... olive oil, which have antioxidant, anti-inflammatory and anti-clotting ... the so-called Mediterranean Diet, according to a new ... the Journal of the American College of Cardiology. ... of the Mediterranean diet on cardiovascular disease and ...
Cached Biology News:Researchers discover new form of cancer gene regulation 2Researchers discover new form of cancer gene regulation 3OHSU discovery sheds light into how stem cells become brain cells 2Phenolic compounds may explain Mediterranean diet benefits 2Phenolic compounds may explain Mediterranean diet benefits 3
(Date:4/23/2015)... Athena San Diego, an organization that accelerates ... San Diego’s technology and life science sectors, will announce ... their Gala on April 30, 2015 from 5-9pm at ... http://athenasd.org/events/ , The Pinnacle Awards recognize individuals and ... of fostering networking, risk taking and diversity of thought, ...
(Date:4/23/2015)... April 23, 2015 /CNW/ - A new and innovative ... from North America,s largest ... won Silver in the "Sustainability, service" category of ... Brandcheck "Competitor Comparison" is a service that scores ... and Global peers. This benchmarking process shows clients ...
(Date:4/23/2015)... D.C. (PRWEB) April 23, 2015 ... D.C. region on April 4-17 as part of ... marks the fourth group of biotechnology startups to ... of Nizhny Novgorod (UNN) and the University of ... deepen ties between their respective universities in the ...
(Date:4/23/2015)... -- WuXi PharmaTech (Cayman) Inc. (NYSE: WX ), ... serving the pharmaceutical, biotechnology and medical device industries, with ... the United States , today announced that ... of 2015 after the New York Stock Exchange closes ... morning, May 14, 2015 Shanghai time). The earnings release ...
Breaking Biology Technology:Athena Pinnacle Awards to Honor Executives, Corporations and Educators Working to Promote Women Leaders 2U.S.-Russian Innovation Corridor Program Connects Visiting Russian Startups to U.S. Experts 2U.S.-Russian Innovation Corridor Program Connects Visiting Russian Startups to U.S. Experts 3U.S.-Russian Innovation Corridor Program Connects Visiting Russian Startups to U.S. Experts 4WuXi PharmaTech Schedules First-Quarter 2015 Earnings Release 2WuXi PharmaTech Schedules First-Quarter 2015 Earnings Release 3
... pampered pushovers. O,Reilly et al. report that certain stem ... to control their division and differentiation., Some stem cells ... a structure called the niche. The niche not only ... whether they reproduce and specialize. The standard view is ...
... SAN DIEGO, Aug. 25 Amylin Pharmaceuticals,Inc. (Nasdaq: ... LLY ) will Web cast a,conference call on ... to,discuss the recent FDA advisory on BYETTA(R) (exenatide) injection. ... Amylin,s President and,Chief Executive Officer and Orville G. Kolterman, ...
... Experts Dodson and Tannenbaum Join as Chief ... Executive Officer, Chief Financial Officer, SUNNYVALE, Calif., Aug. ... appointed medical device industry experts,Scott Dodson as President and Chief ... Chief Financial Officer (CFO). Both,executives will assume key roles with ...
Cached Biology Technology:Amylin and Lilly Set Date and Time for Conference Call 2Avantis Medical Systems, Inc. Announces Key Leadership Appointments 2
...
... three step procedure (PCR, Exonuclease III digestion ... one day. The typical cloning efficiency using ... Features and Benefits: , , Universal - ... expression vector , High Cloning Efficiency - ...
... Streptavidin-AP Systems provide rapid, precise localization ... in frozen or paraffin-embedded tissue, cytospins ... also facilitate double or triple labeleing ... simultaneously with primary antibodies of different ...
... This reagent is intended for use as ... MTF). Michels Transport Fluid is useful for ... lymph nodes) for immunofluorescence studies. Samples may ... days at room temperature. Michels Transport Fluid ...
Biology Products: