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:12/9/2016)... ... December 09, 2016 , ... The Justin Veatch Fund announced Thursday ... recommending the film Whispering Spirits and its discussion guide for use by ... education tool in the war against teen drug abuse. NCADD is the oldest ...
(Date:12/9/2016)... ... ... Mediaplanet today announces distribution of the latest edition of “Transplants,” a cross-platform ... an organ donor for the 123,000 people in the United States who are currently ... to 8 saves through organ donation and enhance many others through tissue donation, however ...
(Date:12/9/2016)... ... December 09, 2016 , ... "I had a terrible ... from Winchester, Va. "I thought that if the nebulizer had a more child-friendly design, ... fearing them." , He developed the patent-pending NEBY to avoid the need to deliver ...
(Date:12/8/2016)... ... December 08, 2016 , ... The Florida Hospital Tampa ... Hyperbaric Medical Society (UHMS), the leading authority in hyperbaric medicine. This accreditation identifies ... few hospitals and facilities have earned this distinction. This is the second time ...
(Date:12/8/2016)... , ... December 08, 2016 , ... ... to announce that “Natural Language Processing–Enabled and Conventional Data Capture Methods for Input ... JMIR Medical Informatics . , Results of the comparative usability study demonstrate that ...
Breaking Medicine News(10 mins):
(Date:12/8/2016)... 8, 2016  Diplomat Pharmacy, Inc. (NYSE: DPLO) has been recognized ... Top Workplaces National Standard. To learn more about ... ... Inc.) ... survey administered by WorkplaceDynamics, LLC, a research firm specializing in organizational ...
(Date:12/8/2016)... -- Research and Markets has announced the addition of the ... ... report analyzes the worldwide markets for Endodontic Supplies in US$ Thousand. The report ... Japan , Europe , Asia-Pacific ... Annual estimates and forecasts are provided for the period 2015 through 2022. Also, ...
(Date:12/8/2016)... , Dec. 8, 2016   TriNetX ... Nationwide Children,s Hospital signed a membership ... accelerate the development of new cures. ... representing over 57 million patients globally, biopharmaceutical companies ... together to improve protocol design, site selection, patient ...
Breaking Medicine Technology: