HOME >> BIOLOGY >> NEWS
Understanding Fragile X syndrome with the blink of an eye

While researchers have long known the genetic defect underlying Fragile X syndrome, they are still tracing how that defect creates the complex mix of mental retardation, hyperactive behavior, attention deficits, and other problems in the disorder. Fragile X is particularly important because it is the most common single-gene cause of mental retardation--affecting about 1 in 4000 males and 1 in 8000 females in the U.S.

In an article in the August 4, 2005, issue of Neuron, researchers led by Chris De Zeeuw of Erasmus University Rotterdam report that they have pinpointed a specific cause of defects in motor learning in Fragile X patients. Their work represents the first investigation of the role of abnormalities in the brain's cerebellum in Fragile X syndrome.

Fragile X syndrome is caused by a defect in the Fragile X mental retardation 1 (Fmr1) gene, which in turns produces a nonfunctioning protein, FMRP. In their studies, De Zeeuw and colleagues studied the behavioral effects on motor learning and the effects on neurons in the cerebellum of knocking out this gene.

They found that mice lacking the gene showed deficits in a particular motor learning task known to be largely controlled by the cerebellum. In this "eyeblink conditioning" task, the mice were taught to associate a stimulus such as a tone with a puff of air on their eye, and the blink response was measured as an indication of how well the animals could learn the task. The researchers found that mice completely lacking the Fmr1 gene showed deficits in the motor learning task. But most importantly, the researchers also found that mice lacking the Fmr1 gene only in specific neurons, called Purkinje cells, in the cerebellum showed the deficit.

Detailed electrophysiological studies of Purkinje cells in such mutant mice revealed that the cells showed an enhanced weakening of their signaling connections--called long-term depression. The researchers also found that the Purkinje c
'"/>

Contact: Heidi Hardman
hhardman@cell.com
617-397-2879
Cell Press
3-Aug-2005


Page: 1 2

Related biology news :

1. Understanding why C. difficile causes disease -- its hungry
2. Understanding the global carbon budget -- Woods Hole Research Center expert provides insights
3. Understanding occupational safety and health issues of nanotechnology
4. Understanding the Arctic -- NSF-funded expeditions cover new ground in climate science
5. Understanding climate change: Public forum in Philadelphia next week
6. Understanding food nutrition labels challenging for many people
7. Understanding of cell protection mechanism points to therapies to prevent heart attacks and strokes
8. Understanding the life of C. elegans
9. Drawing a crowd: Understanding the signals that bring inflammatory cells into the lung
10. Jane Lubchenco receives the 2005 AAAS Public Understanding of Science and Technology Award
11. Understanding the oceans microbes is key to the Earths future

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:4/17/2017)... -- NXT-ID, Inc. (NASDAQ: NXTD ) ("NXT-ID" or ... 2016 Annual Report on Form 10-K on Thursday April 13, 2017 ... ... Investor Relations section of the Company,s website at http://www.nxt-id.com  under ... http://www.sec.gov . 2016 Year Highlights: ...
(Date:4/11/2017)... No two people are believed to ... York University Tandon School of Engineering and Michigan ... partial similarities between prints are common enough that ... and other electronic devices can be more vulnerable ... in the fact that fingerprint-based authentication systems feature ...
(Date:4/5/2017)... LONDON , April 4, 2017 KEY ... is anticipated to expand at a CAGR of 25.76% ... neurodegenerative diseases is the primary factor for the growth ... full report: https://www.reportbuyer.com/product/4807905/ MARKET INSIGHTS The ... of product, technology, application, and geography. The stem cell ...
Breaking Biology News(10 mins):
(Date:10/12/2017)... ... October 12, 2017 , ... ... Lithuania, announced today that they have entered into a multiyear collaboration to identify ... CRISPR researchers with additional tools for gene editing across all applications. , Under ...
(Date:10/11/2017)... ... October 11, 2017 , ... At its national board ... Suneel I. Sheikh, the co-founder, CEO and chief research scientist of Minnesota-based Advanced ... for membership in ARCS Alumni Hall of Fame . ASTER Labs is ...
(Date:10/11/2017)... -- VMS BioMarketing, a leading provider of patient support solutions, has ... (CNE) network, which will launch this week. The VMS CNEs ... professionals to enhance the patient care experience by delivering peer-to-peer ... care professionals to help women who have been diagnosed and ... ...
(Date:10/10/2017)... ... 10, 2017 , ... San Diego-based team building and cooking events company, Lajollacooks4u, ... The bold new look is part of a transformation to increase awareness, appeal ... growth period. , It will also expand its service offering from its signature gourmet ...
Breaking Biology Technology:
Cached News: