Navigation Links
Researchers discover and treat toxic effects of ALS mutation in neurons made from patients' skin cells
Date:10/19/2013

Researchers have discovered how the most common genetic abnormality in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) kills neurons and have successfully developed a therapeutic strategy to block this neurodegeneration in neurons made from the skin cells of ALS patients. The findings, which are published online in the October 16th issue of the Cell Press journal Neuron, have important implications for treating patients with these debilitating, currently incurable neurodegenerative diseases.

The most common genetic mutation in ALS and FTD is an abnormal repeated expansion of the coding sequence within a gene, C9ORF72, with unknown function. This mutation has been found in at least 8% of sporadic ALS and FTD cases and more than 40% of hereditary ALS and FTD cases.

"We designed experiments to find out how the repeat expansion in C9ORF72 causes cell death and disease progression," says co-senior author Dr. Rita Sattler, of Johns Hopkins University. "We used human skin cells that we obtained from patients affected with ALS and converted them into neurons via a technology called induced pluripotent stem cell production," she explains.

The researchers found that such neurons had distinct abnormalities, including dysregulated gene expression, aggregation of proteins that bind to RNA from the expansion, and susceptibility to damage from excess stimulation. These effects were reversed by blocking the RNA produced by the abnormal genetic expansion in C9ORF72. This discovery reveals how the repeated expansion in C9ORF72 may cause ALS and demonstrates the therapeutic potential of directly targeting the toxic RNA byproducts generated by the C9ORF72 expansion. "There is a great need for therapies for both ALS and FTD. We are encouraged by the new use of these stem cells to rapidly identify new treatments," says co-senior author Dr. Jeffrey Rothstein, Director of the Brain Science Institute and the Robert Packard Center for ALS research at Johns Hopkins University.

The findings indicate that RNA toxicity plays a key role in the development of ALS as well as FTD. "Future research will focus on optimizing the candidate therapies discovered by our team in this study as well as developing biomarkers that can be used to test the efficacy of other potentially promising drugs," says Dr. Rothstein


'/>"/>

Contact: Mary Beth O'Leary
moleary@cell.com
671-397-2802
Cell Press
Source:Eurekalert  

Related biology technology :

1. New England Biolabs Introduces Polbase, an Information Repository of Scientific Data for Polymerase Researchers
2. In new quantum-dot LED design, researchers turn troublesome molecules to their advantage
3. Multidisciplinary team of researchers develop world’s lightest material
4. Researchers shrink tumors and minimize side effects using tumor-homing peptide to deliver treatment
5. Innovative MetaMorph® NX Software Shatters Barriers Between Researchers and Image Analysis Goals with Exclusive Visual Workflow
6. UCLA researchers demonstrate fully printed carbon nanotube transistor circuits for displays
7. Penn and Brown researchers demonstrate earthquake friction effect at the nanoscale
8. Two Top Biological Imaging Centers Offer Powerful Free Online Tool to Researchers, Educators, and Public
9. Researchers develop one of the worlds smallest electronic circuits
10. MU researchers identify key plant immune response in fight against bacteria
11. Researchers realize high-power, narrowband terahertz source at room temperature
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Researchers discover and treat toxic effects of ALS mutation in neurons made from patients' skin cells
(Date:10/10/2017)... ... October 10, 2017 , ... San Diego-based team building and cooking ... initiative announced today. The bold new look is part of a transformation to ... into a significant growth period. , It will also expand its service offering from ...
(Date:10/10/2017)... ... 2017 , ... Dr. Bob Harman, founder and CEO of VetStem Biopharma, ... The event entitled “Stem Cells and Their Regenerative Powers,” was held on ... DVM, MPVM was joined by two human doctors: Peter B. Hanson, M.D., Chief of ...
(Date:10/10/2017)... ... October 10, 2017 , ... USDM Life Sciences ... the life sciences and healthcare industries, announces a presentation by Subbu Viswanathan and ... presentation, “Automating GxP Validation for Agile Cloud Platforms,” will present a revolutionary approach ...
(Date:10/9/2017)... (PRWEB) , ... October 09, 2017 , ... The award-winning ... to broadcast first quarter 2018. American Farmer airs Tuesdays at 8:30aET on RFD-TV. ... is faced with the challenge of how to continue to feed a growing nation. ...
Breaking Biology Technology:
(Date:5/23/2017)... robotic gym for the rehabilitation and functional motor sense evaluation of lower ... . The first 30 robots will be available from June in ... The technology was developed and patented at the IIT laboratories and has ... to a 10 million euro investment from entrepreneur Sergio Dompè. ... ...
(Date:4/24/2017)... WASHINGTON , April 24, 2017 ... counsel and partner with  Identity Strategy Partners, LLP ... "With or without President Trump,s March 6, ... Foreign Terrorist Entry , refugee vetting can be instilled ... refugee resettlement. (Right now, all refugee applications are ...
(Date:4/13/2017)... April 13, 2017 UBM,s Advanced Design and ... will feature emerging and evolving technology through its 3D ... will run alongside the expo portion of the event ... and demonstrations focused on trending topics within 3D printing ... and manufacturing event will take place June 13-15, 2017 at ...
Breaking Biology News(10 mins):