Featured Research

from universities, journals, and other organizations

Proteins Involved In New Neurodegenerative Syndrome Identifed

Date:
August 16, 2007
Source:
Baylor College of Medicine
Summary:
The interplay of two proteins that bind to messenger RNA, a molecule that mediates translation of the information encoded in genes into proteins, triggers the appearance of fragile X-associated tremor/ataxia syndrome, a late-life disorder associated with the gene that causes fragile X syndrome in children, said researchers.

The interplay of two proteins that bind to messenger RNA, a molecule that mediates translation of the information encoded in genes into proteins, triggers the appearance of fragile X-associated tremor/ataxia syndrome (FTAX), a late-life disorder associated with the gene that causes fragile X syndrome in children, said researchers from Baylor College of Medicine in Houston and Emory University School of Medicine in a report that appears August 15 in the journal Neuron.

Related Articles


"They are two different diseases, but they are related to one gene," said Dr. Juan Botas, associate professor of molecular and human genetics at BCM. Fragile X syndrome is the most common inherited form of mental retardation. It occurs in one in 4,000 males and one in 6,000 females.

The ways in which the two disorders occur differ. In both, the gene FMR1 contains too many repeats of the tri-nucleotide CGG. Those with fragile X syndrome have more than 200 repeats, causing the person to lack the fragile X mental retardation protein (FMRP) encoded by the gene. Those who develop fragile X-associated tremor/ataxia syndrome later in life have a "premutation" set of repeats of CGG totaling between 60 and 200. These individuals make the FMRP protein and do not develop fragile X syndrome. Previously, it was thought that 60-200 repeats had no effect on premutation carrier individuals. Now it appears that it does affect a subset of carriers, although it is unclear how many.

People with fragile X-associated tremors/ataxia syndrome suffer from tremor that becomes more severe over time. They have difficulty with walking and balance. Their disease can progress slowly over years until they have difficulty carrying out the activities of daily life. It is found in the grandfathers of children with fragile X syndrome, and it often begins when people are in the 50s and 60s. Most of those with the disease are men.

Researchers noticed that people with the fragile X-associated tremor/ataxia syndrome have higher than normal levels of messenger RNA. Messenger RNA or mRNA takes the protein's blueprint from the DNA in the cell nucleus to the protein-manufacturing ribosome in the cytoplasm (the jelly-like material that fills the cell's interior).

Studying fruit flies, Botas and his colleagues found two RNA-binding proteins hnRNP A2/B1 and CUGBP1 that are involved in the new disease. RNA-binding proteins control the metabolism of mRNA. However, these RNA-binding proteins tend to bind to CGG repeats. When there are too many CGG repeats, too many molecules of these proteins are bound to the repeats, preventing them from fulfilling their normal function of controlling mRNA metabolism.

When Botas and his colleagues created a fly with too many CGG repeats, the fly developed the neurodegenerative disease. However, when they developed a fly that made more than the normal amount of the RNA-binding proteins, the disease was much less severe.

Others who contributed to the work include Drs. Oyinkan A. Sofola, Maria de Haro and David L. Nelson, all of BCM, and Peng Jin, Yunlong Qin, Ranhui Duan and Huijie Liu, all of Emory University School of Medicine.

Funding for this research came from the National Institutes of Health, the Baylor College of Medicine Mental Retardation and Developmental Disabilities Research Center and the BCM-Emory Fragile X Research Center.


Story Source:

The above story is based on materials provided by Baylor College of Medicine. Note: Materials may be edited for content and length.


Cite This Page:

Baylor College of Medicine. "Proteins Involved In New Neurodegenerative Syndrome Identifed." ScienceDaily. ScienceDaily, 16 August 2007. <www.sciencedaily.com/releases/2007/08/070815122401.htm>.
Baylor College of Medicine. (2007, August 16). Proteins Involved In New Neurodegenerative Syndrome Identifed. ScienceDaily. Retrieved November 23, 2014 from www.sciencedaily.com/releases/2007/08/070815122401.htm
Baylor College of Medicine. "Proteins Involved In New Neurodegenerative Syndrome Identifed." ScienceDaily. www.sciencedaily.com/releases/2007/08/070815122401.htm (accessed November 23, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Sunday, November 23, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

WFP: Ebola Risks Heightened Among Women Throughout Africa

WFP: Ebola Risks Heightened Among Women Throughout Africa

AFP (Nov. 21, 2014) Having children has always been a frightening prospect in Sierra Leone, the world's most dangerous place to give birth, but Ebola has presented an alarming new threat for expectant mothers. Duration: 00:37 Video provided by AFP
Powered by NewsLook.com
Could Your Genes Be The Reason You're Single?

Could Your Genes Be The Reason You're Single?

Newsy (Nov. 21, 2014) Researchers in Beijing discovered a gene called 5-HTA1, and carriers are reportedly 20 percent more likely to be single. Video provided by Newsy
Powered by NewsLook.com
Raw: Paralyzed Marine Walks With Robotic Braces

Raw: Paralyzed Marine Walks With Robotic Braces

AP (Nov. 21, 2014) Marine Corps officials say a special operations officer left paralyzed by a sniper's bullet in Afghanistan walked using robotic leg braces in a ceremony to award him a Bronze Star. (Nov. 21) Video provided by AP
Powered by NewsLook.com
Milestone Birthdays Can Bring Existential Crisis, Study Says

Milestone Birthdays Can Bring Existential Crisis, Study Says

Newsy (Nov. 21, 2014) Researchers find that as people approach new decades in their lives they make bigger life decisions. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins