Lead Inventor:
Eric A. Schon, PhD
Problem or Unmet Need:
Alzheimer's disease (AD) is the most common cause of dementia. Although it is known that certain genetic mutations give rise to AD or increase the risk, it is currently not understood how these genes lead to the disease. Thus, there remains a need for improved methods of diagnosis of AD and for methods to identify compounds suitable for the treatment, prevention or inhibition of AD.
In addition, numerous hypotheses have been proposed in the pathobiology of AD. Mutations in certain genes are known to cause or increase the risk of Familial AD (FAD) or some forms of Sporadic AD (SAD), but the largest group of patients fall outside of these subgroups and develop SAD without known causes.
Details of the Invention:
This invention identifies mutated proteins in sub-cellular compartments and describes how these mutations lead to redistribution of crucial cellular organelles. Alteration of organelle distribution can serve as a powerful diagnostic tool as well as an assay to screen for novel therapeutic compounds for AD. Moreover, agents that counteract these sub-cellular rearrangements could form a new class of therapeutics against AD.
Applications:
-- Provides a method for diagnosing AD, both FAD and SAD
-- Provides a method for screening novel therapeutics to fight AD
-- Provides a novel pathway in the pathobiology of AD from which a new class of theraupeutics can be developed
Advantages:
-- Mutated proteins identified in this technology are directly involved in the genesis of AD, and could be the common principle underlying AD-pathology in both FAD and SAD
-- Potential to provide superior diagnosis of AD compared to current diagnostic tests
-- The screen for therapeutic agents will likely generate compounds with better efficacy compared to current treatments
Patent Status: Patent Issued (2011/0256565) ~ see link below.
Licensing Status: Available for Licensing and Sponsored Research Support
Publications:
Area-Gomez E et al. Presenilins are enriched in Endoplasmic Reticulum Membranes Associated with Mitochondria. American Journal of Pathology; 175, 5, November 2009.
Schon EA et al. Mitochondria-associated ER membranes in Alzheimer disease. Mol Cel Neurosci;Epub, August 2012.
Area-Gomez E et al. Upregulated function of mitochondria-associated ER membranes in Alzhimer disease. EMBO J; Epub, August 2012.