Navigation Links
UCLA stem cell researchers move toward treatment for rare genetic nerve disease
Date:5/10/2013

Led by Dr. Peiyee Lee and Dr. Richard Gatti, researchers at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA have used induced pluripotent stem (iPS) cells to advance disease-in-a-dish modeling of a rare genetic disorder, ataxia telangiectasia (A-T).

Their discovery shows the positive effects of drugs that may lead to effective new treatments for the neurodegenerative disease. iPS cells are made from patients' skin cells, rather than from embryos, and they can become any type of cells, including brain cells, in the laboratory. The study appears online ahead of print in the journal Nature Communications.

People with A-T begin life with neurological deficits that become devastating through progressive loss of function in a part of the brain called the cerebellum, which leads to severe difficulty with movement and coordination. A-T patients also suffer frequent infections due to their weakened immune systems and have an increased risk for cancer. The disease is caused by lost function in a gene, ATM, that normally repairs damaged DNA in the cells and preserves normal function.

Developing a human neural cell model to understand A-T's neurodegenerative process and create a platform for testing new treatments was critical because the disease presents differently in humans and laboratory animals. Scientists commonly use mouse models to study A-T, but mice with the disease do not experience the more debilitating effects that humans do. In mice with A-T, the cerebellum appears normal and they do not exhibit the obvious degeneration seen in the human brain.

Lee and colleagues used iPS cellderived neural cells developed from skin cells of A-T patients with a specific type of genetic mutation to create a disease-in-a-dish model. In the laboratory, researchers were able to model the characteristics of A-T, such as the cell's lack of ATM protein and its inability to repair DNA damage. The model also allowed the researchers to identify potential new therapeutic drugs, called small molecule read-through (SMRT) compounds, that increase ATM protein activity and improve the model cells' ability to repair damaged DNA.

"A-T patients with no ATM activity have severe disease but patients with some ATM activity do much better," Lee said. "This makes our discovery promising, because even a small increase in the ATM activity induced by the SMRT drug can potentially translate to positive effects for patients, slowing disease progression and hopefully improving their quality of life."

These studies suggest that SMRT compounds may have positive effects on all other cell types in the body, potentially improving A-T patients' immune function and decreasing their susceptibility to cancer.

Additionally, the patient-specific iPS cellderived neural cells in this study combined with the SMRT compounds can be an invaluable tool for understanding the development and progression of A-T. This iPS cellneural cell A-T disease model also can be a platform to identify more potent SMRT drugs. The SMRT drugs identified using this model can potentially be applied to most other genetic diseases with the same type of mutations.


'/>"/>

Contact: Shaun Mason
smason@mednet.ucla.edu
310-206-2805
University of California - Los Angeles
Source:Eurekalert

Related medicine news :

1. Researchers Pinpoint Cause of Port-Wine Stain Birthmarks
2. Duke researchers describe how breast cancer cells acquire drug resistance
3. CWRU School of Medicine researchers discover new target for personalized cancer therapy
4. U of M researchers discover link between heart, blood, and skeletal muscle
5. Researchers determine where best to place defibrillators
6. Researchers plot locations where AEDs could save more lives
7. Gene Mutation Linked to Migraines, Researchers Say
8. Discovery of New Cause of Congenital Hydrocephalus Opens the Door to Collaborative Research Study, Hydrocephalus Association Commends Researchers
9. Northwestern Medicine researchers work to improve heart attack response time
10. NYU and NYU Langone researchers devise method for enhancing CEST MRI
11. Medicaid-insured children have limited access to dermatologists, SLU researchers find
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/27/2016)... ... June 27, 2016 , ... TherapySites, ... today its affiliation with Tennessee Counseling Association. This new relationship allows ... the Tennessee Counseling Association, adding exclusive benefits and promotional offers. , "TCA is ...
(Date:6/27/2016)... NY (PRWEB) , ... June 27, 2016 , ... ... using cutting edge technology to revolutionize the emergency ambulance transport experience for the ... are aware of how Uber has disrupted the taxi industry through the use ...
(Date:6/26/2016)... ... June 27, 2016 , ... Quality metrics are proliferating in ... ways they remain in the eye of the beholder, according to experts who offered ... The American Journal of Managed Care. For the full issue, click here . ...
(Date:6/26/2016)... , ... June 26, 2016 , ... Pixel Film Studios ... X. , "Film editors can give their videos a whole new perspective by using ... - CEO of Pixel Film Studios. , ProSlice Levels contains over 30 Different ...
(Date:6/26/2016)... ... ... Kasmer, a legally blind and certified personal trainer is helping to develop a weight loss ... plans to fix the two major problems leading the fitness industry today:, ... , They don’t eliminate all the reasons people quit their exercise program ...
Breaking Medicine News(10 mins):
(Date:6/24/2016)... 2016 According to a new ... Pen Needles, Safety Pen Needles), Needle Length (4mm, 5mm, ... Mode of Purchase (Retail, Non-Retail) - Trends & Global ... the market for the forecast period of 2016 to ... Billion by 2021 from USD 1.65 Billion in 2016, ...
(Date:6/23/2016)... , June 23, 2016 Research ... Devices Global Market - Forecast to 2022" report to ... the treatment method for the patients with kidney failure, it ... excess fluid from the patient,s blood and thus the treatment ... potassium and chloride in balance. Increasing number ...
(Date:6/23/2016)... 2016 Research and Markets has announced ... Analysis 2016 - Forecast to 2022" report to their ... contains up to date financial data derived from varied research ... trends with potential impact on the market during the next ... which comprises of sub markets, regional and country level analysis. ...
Breaking Medicine Technology: