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:
TAG: Understanding Fragile syndrome with the blink eye

(Date:8/6/2015)... 2015 Synaptics Inc. (NASDAQ: SYNA ... today announced collaboration with Microsoft on biometric fingerprint ... leveraged Synaptics, deep expertise in human interface which ... Through stringent testing, Synaptics, advanced image sensing ... Precision TouchPad (PTP) specification empowering OEMs with Windows ...
(Date:8/5/2015)... MOUNTAIN VIEW, Calif. , Aug. 5, 2015 /PRNewswire/ ... it exhibits continuous growth in applications, penetration into newer ... year after year. The global biosensors space has seen ... having exited the market so far. (Photo ... from Frost & Sullivan, Analysis of the Global ...
(Date:8/3/2015)... SAN JOSE, Calif. , Aug. 3, 2015 /PRNewswire/ ... developer of human interface solutions, today announced that members ... investment community at the Pacific Crest Global Technology Leadership ... Mountain Time. The conference will be held at the ... The presentation may include forward-looking information. ...
Breaking Biology News(10 mins):Synaptics Chosen for Human Interface Co-Development on Windows 10 2Innovative Biosensors Incite Use in Non-Traditional Applications 2Innovative Biosensors Incite Use in Non-Traditional Applications 3Innovative Biosensors Incite Use in Non-Traditional Applications 4
(Date:8/28/2015)... ... August 28, 2015 , ... Pittcon is pleased ... present a session on chemical spectroscopic imaging at JASIS 2015 (Japan Analytical & ... largest analytical and scientific instruments show which will be held at International Conference ...
(Date:8/27/2015)... ... August 27, 2015 , ... ... venture capital funds, investment firms and animal health companies to hear from animal ... $160 million. Several have also received licensing agreements or distribution contracts. This ...
(Date:8/27/2015)... 2015 The National Necrotizing Fasciitis Foundation ... saved by doctors at Vanderbilt University Hospital in ... Pharmaceuticals and Dr. John Crew , director of ... Medical Center in Daly City, CA. ... approach, pioneered by Dr. Crew, that had previously saved ...
(Date:8/27/2015)... GlassesOff (OTCBB: GLSO), a visual neuroscience technology company ... system, announced today a partnership with eight-time All-Star, ... to develop a new mobile app designed for professional and ... performance. Vision is the inception of every move ... or blocking a pass. The critical impact vision speed has ...
Breaking Biology Technology:U.S. Symposium on Imaging Organized by Pittcon’s Program Chairman Chuck Gardner 2U.S. Symposium on Imaging Organized by Pittcon’s Program Chairman Chuck Gardner 3VetStem Biopharma, Inc. Among Seventeen Companies Selected to Present at the KC Animal Health Investment Forum on September 1st 2015 2VetStem Biopharma, Inc. Among Seventeen Companies Selected to Present at the KC Animal Health Investment Forum on September 1st 2015 3Patient's Life and Eyes Saved from Gruesome Flesh-Eating Infection Consuming Her Face 2Patient's Life and Eyes Saved from Gruesome Flesh-Eating Infection Consuming Her Face 3Eight-Time All-Star Chris Paul and GlassesOff Partner to Develop Innovative Mobile App Designed to Improve On-Court Performance 2Eight-Time All-Star Chris Paul and GlassesOff Partner to Develop Innovative Mobile App Designed to Improve On-Court Performance 3
Cached News: