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:6/27/2017)... California (PRWEB) , ... June 27, 2017 , ... A ... has been projected to reach a staggering $6.81 billion by the year 2024 according ... rising at a faster rate than those made from titanium. Los Angeles area clinic ...
(Date:6/27/2017)... ... June 27, 2017 , ... Atmosera ... Atmosera Managed Azure Services . The trusted, transparent, and secure solution for ... company’s growing customer base. Atmosera’s next generation services include integrated capabilities for public, ...
(Date:6/27/2017)... Simi Valley, CA (PRWEB) , ... June 27, 2017 , ... ... deployed since 2001 suffer from PTSD. Yet less than 20% will receive adequate care ... of those with PTSD won't receive any care at all. And left untreated, veterans ...
(Date:6/26/2017)... ... June 26, 2017 , ... Torrance dentist, Dr. Robert Mondavi DDS , ... most noticeable aspects of a person’s appearance. A healthy, radiant smile can make a ... balanced teeth, everyone can have the smile of their dreams with cosmetic dentistry. , ...
(Date:6/26/2017)... , ... June 26, 2017 , ... ... to a recent review of government data released by the United Soybean Board. ... management practices, Maryland’s soybean farmers have increased their productivity on less land per ...
Breaking Medicine News(10 mins):
(Date:6/14/2017)... , June 14, 2017  In 2016, ... Creative Startups pitch competition and came away with ... platform is described by Forbes as "entering the life ... Medical Association as teaching "empathy to medical professionals in ... startup was recently named a finalist for the Department ...
(Date:6/9/2017)... 2017 AirXpanders, Inc. (ASX: AXP) (AirXpanders or ... manufacture, sale and distribution of the AeroForm® Tissue Expander ... its commercial roll-out in the United States ... one hundred (100) medical institutions and health systems, located ... needle-free alternative for women who choose reconstructive surgery following ...
(Date:6/7/2017)... 2017 Endo International plc (NASDAQ: ... Hon. Joseph R. Goodwin , U.S. District Court ... Virginia , entered a case management order in ... Products Liability Litigation (the "MDL") that includes a provision ... expert disclosures on specific causation within one hundred twenty ...
Breaking Medicine Technology: