Navigation Links
Researchers identify proteins involved in new neurodegenerative syndrome
Date:8/15/2007

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 today in the journal Neuron.

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 proteins blueprint from the DNA in the cell nucleus to the protein-manufacturing ribosome in the cytoplasm (the jelly-like material that fills the cells 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.


'/>"/>
Contact: Kimberlee Barbour
kbarbour@bcm.edu
713-798-4712
Baylor College of Medicine
Source:Eurekalert

Related biology news :

1. Researchers discover way to make cells in the eye sensitive to light
2. Researchers find how protein allows insects to detect and respond to pheromones
3. Researchers Uncover Key Step In Manufacture of Memory Protein
4. NYU researchers simulate molecular biological clock
5. Researchers reveal the infectious impact of salmon farms on wild salmon
6. Researchers identify target for cancer drugs
7. Vital step in cellular migration described by UCSD medical researchers
8. ASU researchers finds novel chemistry at work to provide parrots vibrant red colors
9. UCSD researchers maintain stem cells without contaminated animal feeder layers
10. Researchers discover molecule that causes secondary stroke
11. Researchers find missing genes of ancient organism
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:3/31/2016)... R.I. , March 31, 2016  Genomics firm ... of founding CEO, Barrett Bready , M.D., who ... members of the original technical leadership team, including Chief ... President of Product Development, Steve Nurnberg and Vice President ... returned to the company. Dr. Bready served ...
(Date:3/23/2016)... March 23, 2016 ... Sicherheit Gesichts- und Stimmerkennung mit Passwörtern ... (NASDAQ: MESG ), ein führender Anbieter ... Unternehmen mit SpeechPro zusammenarbeitet, um erstmals dessen ... wird die Möglichkeit angeboten, im Rahmen mobiler ...
(Date:3/22/2016)... Ontario , PROVO and ... Newborn Screening Ontario (NSO), which operates the ... for molecular testing, and Tute Genomics and UNIConnect, ... management technology respectively, today announced the launch of a ... next-generation sequencing (NGS) testing panel. NSO ...
Breaking Biology News(10 mins):
(Date:6/24/2016)... ... June 24, 2016 , ... While the majority of commercial spectrophotometers and fluorometers ... the 6000i models are higher end machines that use the more unconventional z-dimension of ... beam from the bottom of the cuvette holder. , FireflySci has developed several ...
(Date:6/23/2016)... 2016 /PRNewswire/ - FACIT has announced the creation ... biotechnology company, Propellon Therapeutics Inc. ("Propellon" or "the ... a portfolio of first-in-class WDR5 inhibitors for the ... WDR5 represent an exciting class of therapies, possessing ... for cancer patients. Substantial advances have been achieved ...
(Date:6/23/2016)... 2016  The Biodesign Challenge (BDC), a university competition ... harness living systems and biotechnology, announced its winning teams ... New York City . The ... projects at MoMA,s Celeste Bartos Theater during the daylong ... senior curator of architecture and design, and Suzanne ...
(Date:6/23/2016)... Apellis Pharmaceuticals, Inc. today announced positive ... its complement C3 inhibitor, APL-2. The trials were ... studies designed to assess the safety, tolerability, pharmacokinetics ... healthy adult volunteers. Forty subjects were ... dose (ranging from 45 to 1,440mg) or repeated ...
Breaking Biology Technology: