Description:
Reference #: 01572
The University of South Carolina is offering licensing opportunities for 2-Hydroxyglutarate Enantiomer Detection in Complex I Deficient Encephalopathy
Background:
There are genetic diseases that impair the function of the mitochondria, they do not make enough ATP (energy) for demanding tissues such as the brain and muscles. One of the most common of these is known as Leigh Syndrome, and is associated with a failure to thrive, muscle weakness and eventual brain lesions. There are no specific biomarkers of these diseases, and no cures.
Invention Description:
We measured a specific metabolite that we expected might increase in an animal model of Leigh syndrome and were surprised to learn that it decreased in affected brain regions and in the serum. Further study of this metabolite and how it is used by the body suggests that it might be useful to these cells, they can use it in a manner that normal cells cannot. We realize this may mean that it has potential to be a specific treatment for the cells, or a biomarker of this type of mitochondrial disease.
Potential Applications:
There are no specific biomarkers for mitochondrial diseases, and limited treatment options beyond supplementing vitamins, antioxidants etc. Detection of low levels of the proposed metabolite might be a specific disease biomarker.
Advantages and Benefits:
It is extremely difficult to detect a unique biomarker for these diseases, and even rarer to determine a therapeutic approach that might work and be readily translatable. The proposed technology offers an advantage if an ester form of the metabolite could be used as a therapy, as this would improve delivery, and minimize risk or side effects as it is not a drug that would impact other pathways.