Navigation Links
U-M researchers discover way to block neurodegeneration in an adult form of Fragile X syndrome
Date:12/13/2010

Ann Arbor, Mich. Expression of a toxic RNA that leads to Fragile X Tremor Ataxia Syndrome is modifiable by genetic or pharmacologic means, according to new research from U-M Medical School scientists.

In the study published online today in the journal Public Library Of Science Genetics, U-M's Peter K. Todd, M.D., Ph.D., led a team of researchers who examined the expression of a toxic messenger RNA (mRNA) seen in the brains of those afflicted with the syndrome.

Fragile X Tremor Ataxia Syndrome (FXTAS) is usually found in older adults, who often have grandchildren afflicted with Fragile X. Those affected with the adult form of the syndrome have slow gait, tremors, dementia and balance problems. The symptoms are caused by overproduction of a toxic mRNA in the brain that causes neurodegeneration.

"We found that the expression of this toxic mRNA is dynamic and modifiable," says Todd, who is an assistant professor in U-M's Department of Neurology. "There is a potential for modifying the increased production of the toxic RNA with drugs that inhibit histone acetylation."

FXTAS is an under-diagnosed syndrome that was only discovered about 10 years ago, when researchers discovered the grandfathers of children with Fragile X were displaying common symptoms. It is one of three known Fragile X disorders that result from changes in the Fragile X gene. The altered gene can be passed down through generations, affecting both genders at different stages in life.

About 1 in 3,000 men and about 1 in 5,200 women in the general population will develop symptoms of FXTAS, according to the National Fragile X Foundation. Current estimates suggest that about 30-40 percent of male Fragile X gene carriers over 50 years of age, within families already known to have someone with a Fragile X-associated disorder, will ultimately exhibit some features of FXTAS.

Fragile X is the most common cause of developmental delay in boys and is the most common known single gene cause of autism.

Using both fruit fly models and human cells, the U-M researchers found that drugs that inhibit histone acetyltransferases modify the brain changes associated with FXTAS and could provide the pathway to a therapeutic target.

"These drugs that we used are too toxic for use in patients but the important finding is that we have a better idea of what's driving this syndrome and proof of principle that those brain changes can be modified," says Todd.

"Our findings underscore the need for developing more specific modifiers of expression at the Fragile X gene, with the long-term goal of developing preventive therapy for FXTAS patients," says Todd.

Todd stressed the need for more research into neurodegenerative diseases like FXTAS, which can be devastating to families.

"This should be a high priority. Neurodegeneration robs people of their humanity," Todd says. "To lead a happy and fruitful life, you have to protect the brain."


'/>"/>

Contact: Mary F. Masson
mfmasson@umich.edu
734-764-2220
University of Michigan Health System
Source:Eurekalert

Related medicine news :

1. Leibniz Prize 2011: 10 researchers awarded €2.5 million ($3.3 million) each
2. Researchers Turn Stem Cells Into Intestinal Tissue in Lab
3. Expert analysis of HER2 tests reveals issues with reliability, Mayo Clinic researchers say
4. Researchers establish new rule to predict risk of stroke, death from surgery that prevents it
5. Hospital shootings rare, but rate of other assults high, Johns Hopkins researchers find
6. Fox Chase researchers uncover new risk factors for brain metastases in breast cancer patients
7. Autism breakthrough: Researchers identify possible treatment for impaired sociability
8. Researchers Assess Gay Youths Mental Health
9. Restless Legs in Pregnancy Likely to Recur, Researchers Say
10. AgriLife researchers find way to cut food-irradiation levels by half
11. New clue in leukemia mystery: Researchers identify poison employed by deadly enzyme mutations
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/5/2016)... ... , ... TLC Laser Eye Centers announced today that it has acquired Gordon ... be called “Gordon Schanzlin New Vision Institute, a TLC Laser Eye Center.” , ... ensure that patients continue to receive the highest quality of care. In addition, all ...
(Date:5/5/2016)... ... May 05, 2016 , ... This weekend, from Friday, May 6 - Sunday, May ... California terrain at the first Team Semper Fi Mountain Bike Camp, hosted in conjunction with ... mountain bike legends Mark Weir and Jason Moeschler, who’ll share pro tips with the injured ...
(Date:5/5/2016)... FRANCISCO (PRWEB) , ... May 05, 2016 , ... ... the Unites States to promise successful results with IVF and with egg freezing, ... to deliver the most patient-centric and highest quality fertility care, Spring Fertility offers ...
(Date:5/5/2016)... ... May 05, 2016 , ... ... use ultraviolet light A (UV-A) for photosynthesis, researchers Juntian Xu and Kunshan Gao ... brown seaweeds. The pair observed that when photosynthetically active radiation (i.e. the white ...
(Date:5/5/2016)... , ... May 05, 2016 ... ... hands-on exercises, the Wharton Seminars for Business Journalists , led by ... of key business and economic issues.  This one-day program at the Wharton ...
Breaking Medicine News(10 mins):
(Date:5/5/2016)... , May 5, 2016 Progra m ... trial of Oxitec , s mosquito ... Aedes aegypti by 96 %   ... a new plan to fight wild Aedes aegypti, the dangerous mosquito ... on the island of Grand Cayman .  MRCU, a global ...
(Date:5/5/2016)... , May 5, 2016  Diagnostic imaging ... decade due to concerns that these tests cause health ... approach to imaging, as well as the adoption ... era of medical peripherals that help health care providers cut ... Ampronix  advanced medical imaging is a renowned authorized reseller ...
(Date:5/5/2016)... , May 5, 2016 Research ... for PET Imaging in the USA"  report to their ... provides information on the current Positron Emission Tomography (PET) ... USA market. Along with the current known ... USA , the report also contains a ...
Breaking Medicine Technology: