Navigation Links
Scripps Florida scientists design molecule that reverses some fragile X syndrome defects
Date:9/4/2012

JUPITER, FL - Scientists on the Florida campus of The Scripps Research Institute have designed a compound that shows promise as a potential therapy for one of the diseases closely linked to fragile X syndrome, a genetic condition that causes mental retardation, infertility, and memory impairment, and is the only known single-gene cause of autism.

The study, published online ahead of print in the journal ACS Chemical Biology September 4, 2012, focuses on tremor ataxia syndrome, which usually affects men over the age of 50 and results in Parkinson's like-symptomstrembling, balance problems, muscle rigidity, as well as some neurological difficulties, including short-term memory loss and severe mood swings.

With fragile X syndrome, tremor ataxia syndrome, and related diseases, the root of the problem is a structural motif known as an "expanded triplet repeat"in which a series of three nucleotides are repeated more times than normal in the genetic code of affected individuals. This defect, located in the fragile X mental retardation 1 (FMR1) gene, causes serious problems with the processing of RNA.

"While there is an abundance of potential RNA drug targets in disease, no one has any idea how to identify or design small molecules to target these RNAs," said Mathew Disney, a Scripps Research associate professor who led the study. "We have designed a compound capable of targeting the right RNA and reversing the defects that cause fragile X-associated tremor ataxia."

Preventing Havoc

In tremor ataxia syndrome, the expanded triplet repeat leads to the expression of aberrant proteins that wreak widespread havoc. The repeats actually force the normal proteins that regulate RNA splicingnecessary for production of the right kind of proteinsinto hiding.

The compound designed by Disney and his colleagues not only improves the RNA splicing process, but also minimizes the ability of repeats to wreak havoc on a cell.

"It stops the repeat-associated defects in cell culture," Disney said, "and at fairly high concentrations, it completely reverses the defects. More importantly, the compound is non-toxic to the cells. It looks like a very good candidate for development, but we're still in the early stages of testing."

Overall, this study reinforces Disney's earlier findings showing it is possible to identify and develop small molecules that target these traditionally recalcitrant RNA defects. In March of this year, Disney published a study in the Journal of the American Chemical Society that described a small molecule that inhibited defects in myotonic dystrophy type 1 RNA in both cellular and animal models of disease.

"We've gotten very good at targeting RNA with small molecules, something a lot of people said couldn't be done," Disney pointed out. "Our approach is evolving into a general method that can be used to target any disease that is associated with an RNA, including, perhaps, fragile X syndrome itself."

The new compound also works as a probe to better understand how these repeats cause fragile X syndrome and how they contribute to tremor ataxia, Disney added.


'/>"/>

Contact: Mika Ono
mikaono@scripps.edu
858-784-2052
Scripps Research Institute
Source:Eurekalert  

Related biology news :

1. Scripps Research discoveries lead to newly approved drug for infant respiratory distress syndrome
2. Scripps Research Institute scientists find promising vaccine targets on hepatitis C virus
3. Scripps Research Institute Professor Gerald F. Joyce elected to American Academy of Arts & Sciences
4. Scripps Research Institute scientists develop antidote for cocaine overdose
5. Scientist wins $3 million renewal of one of longest-running NIH grants to Scripps Research
6. Scripps research scientists find anticonvulsant drug helps marijuana smokers kick the habit
7. Scripps Florida scientist awarded $1.5 million to design therapeutics with new RNA approach
8. Scripps Florida scientists identify neurotranmitters that lead to forgetting
9. Plastic trash altering ocean habitats, Scripps study shows
10. Scripps Florida scientists awarded $8.4 million grant to develop new anti-smoking treatments
11. Esther B. OKeeffe Foundation gives $2 million to the Scripps Research Institute
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Scripps Florida scientists design molecule that reverses some fragile X syndrome defects
(Date:4/13/2016)... CHICAGO , April 13, 2016  IMPOWER physicians ... are setting a new clinical standard in telehealth ... By leveraging the higi platform, IMPOWER patients can ... weight, pulse and body mass index, and, when they ... quick and convenient visit to a local retail location ...
(Date:3/22/2016)... 2016 According to ... for Consumer Industry by Type (Image, Motion, Pressure, ... & IT, Entertainment, Home Appliances, & Wearable ... 2022", published by MarketsandMarkets, the market for ... USD 26.76 Billion by 2022, at a ...
(Date:3/15/2016)... 15, 2016 --> ... Transparency Market Research "Digital Door Lock Systems Market - Global ... 2023," the global digital door lock systems market in terms ... and is forecast to grow at a CAGR of 31.8% ... and medium enterprises (MSMEs) across the world and high industrial ...
Breaking Biology News(10 mins):
(Date:4/27/2016)... ... April 27, 2016 , ... Cambridge Semantics, the ... technology, today announced that it has been named to The Silicon Review’s “20 Fastest ... and other markets, Cambridge Semantics serves the needs of end users facing some of ...
(Date:4/27/2016)... and RESEARCH TRIANGLE PARK, N.C. , ... UTHR ) announced today that Martine Rothblatt ... Therapeutics will provide an overview and update on the ... Annual Health Care Conference. The presentation will ... a.m. Eastern Time, and can be accessed via a ...
(Date:4/27/2016)... ... April 27, 2016 , ... Global Stem Cells Group CEO ... is the founder of GSCG affiliate Kimera Labs in Miami. , In 2004, Ross ... stem cell transplantation for hematologic disorders and the suppression of graft vs. host disease ...
(Date:4/26/2016)... (PRWEB) , ... April 26, 2016 , ... ... today announced that Ardy Arianpour has joined the company as Chief Business Officer. ... experience bringing innovative genomic technologies to market, was most recently Chief Commercial Officer ...
Breaking Biology Technology: