Small Molecule Drugs for Treatment of Ataxia Telangiectasia or DNA Damage
Posted Jan 16 2012 7:00pm
Description of Invention: Ataxia telangiectasia (A-T) is a rare neurodegenerative disease that is caused by mutations in the Ataxia Telangiectasia Mutated (ATM) gene, which is the chief activator of the cellular response to double stranded DNA breaks. Defects in this gene can lead to abnormal cell death, particularly in the brain and in the immune system, and the disease is also characterized by hypersensitivity to radiation and other DNA-damaging agents, as well as a predisposition to lymphoma. There is currently no effective treatment for this disease.
Investigators at the National Human Genome Research Institute (NHGRI) have shown that ATM-null cells treated with rottlerin, a small molecule protein kinase inhibitor, respond to double stranded DNA breaks by activating an alternate DNA repair pathway. Similarly, ATM-null mice demonstrate increased protection from radiation when treated with this compound. Thus, rottlerin or related compounds may be an effective treatment for A-T or other diseases resulting from DNA damage.
Applications: Therapy for ataxia telangiectasia or other diseases resulting from DNA damage.
There is currently no therapy for ataxia telangiectasia.
Rottlerin is a readily-obtained, small molecule compound.
For Licensing Information Please Contact: Tara Kirby Ph.D. NIH Office of Technology Transfer 6011 Executive Blvd. Suite 325, Rockville, MD 20852 United States Email: firstname.lastname@example.org Phone: 301-435-4426 Fax: 301-402-0220