Featured Research

from universities, journals, and other organizations

Stem cell researchers move toward treatments for rare genetic nerve disease

Date:
May 10, 2013
Source:
University of California, Los Angeles (UCLA), Health Sciences
Summary:
Researchers have used induced pluripotent stem cells (iPSC) to advance disease-in-a-dish modeling of a rare genetic disorder, Ataxia Telangiectasia. Their discovery shows positive effects of drugs that may lead to effective new treatments for the neurodegenerative disease. iPSC are made from patient skin cells rather than from embryos and can become any type of cells in the laboratory.

UCLA researchers led by Drs. Peiyee Lee and Richard Gatti at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research have used induced pluripotent stem cells (iPSC) 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. iPSC are made from patient skin cells rather than from embryos and can become any type of cells, including brain cells, in the laboratory.

Related Articles


The study appears online ahead of print today in the journal Nature Communications.

Patients 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 increased cancer risk. A-T is caused by lost function in a gene, ATM, which normally repairs damaged DNA in the cells and preserves normal function.

Laboratory mouse models are commonly used to study A-T; however, mice with A-T 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. Therefore, it was critical to develop a human neural cell model to understand the neurodegenerative process of A-T and create a platform for testing new treatments.

Lee and colleagues used iPSC-derived 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. The researchers were able to model the characteristics of A-T in the laboratory, such as the cell's lack of ATM protein and 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. 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." Lee said.

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 cancer susceptibility. Additionally, the patient-specific iPSC-derived 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 iPSC-neural 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 types of mutation. This research was supported by training and research grants from the California Institute of Regenerative Medicine (CIRM), the National Institutes of Health, APRAT, A-T Ease and Scott Richards Foundation.


Story Source:

The above story is based on materials provided by University of California, Los Angeles (UCLA), Health Sciences. Note: Materials may be edited for content and length.


Journal Reference:

  1. Peiyee Lee, Nathan T. Martin, Kotoka Nakamura, Soheila Azghadi, Mandana Amiri, Uri Ben-David, Susan Perlman, Richard A. Gatti, Hailiang Hu, William E. Lowry. SMRT compounds abrogate cellular phenotypes of ataxia telangiectasia in neural derivatives of patient-specific hiPSCs. Nature Communications, 2013; 4: 1824 DOI: 10.1038/ncomms2824

Cite This Page:

University of California, Los Angeles (UCLA), Health Sciences. "Stem cell researchers move toward treatments for rare genetic nerve disease." ScienceDaily. ScienceDaily, 10 May 2013. <www.sciencedaily.com/releases/2013/05/130507115503.htm>.
University of California, Los Angeles (UCLA), Health Sciences. (2013, May 10). Stem cell researchers move toward treatments for rare genetic nerve disease. ScienceDaily. Retrieved April 25, 2015 from www.sciencedaily.com/releases/2013/05/130507115503.htm
University of California, Los Angeles (UCLA), Health Sciences. "Stem cell researchers move toward treatments for rare genetic nerve disease." ScienceDaily. www.sciencedaily.com/releases/2013/05/130507115503.htm (accessed April 25, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Saturday, April 25, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

85 Killed in Niger by Meningitis Since Start of Year

85 Killed in Niger by Meningitis Since Start of Year

AFP (Apr. 24, 2015) A meningitis outbreak in Niger has killed 85 people since the start of the year prompting authorities to close schools in the capital Niamey until Monday. Video provided by AFP
Powered by NewsLook.com
C-Section Births a Trend in Brazil

C-Section Births a Trend in Brazil

AFP (Apr. 24, 2015) More than half of Brazil&apos;s babies are born via cesarean section, as mothers and doctors opt for a faster and less painful experience despite the health risks. Duration: 02:02 Video provided by AFP
Powered by NewsLook.com
Anti-Malaria Jab Hope

Anti-Malaria Jab Hope

Reuters - News Video Online (Apr. 24, 2015) The world&apos;s first anti-malaria vaccine could get the go-ahead for use in Africa from October if approved by international regulators. Paul Chapman reports. Video provided by Reuters
Powered by NewsLook.com
3D Food Printing: The Meal of the Future?

3D Food Printing: The Meal of the Future?

AP (Apr. 23, 2015) Developers of 3D food printing hope the culinary technology will revolutionize the way we cook and eat. (April 23) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins