Technologies
Propionic acidemia (PA) is a rare but devastating genetic disorder that affects 1 in 35,000 live births in the United States per year and can often lead to infant mortality. PA is the result of a deficiency in the essential metabolic enzyme Propionyl-CoA carboxylase (PCC). This technology is a method of producing human and bacterial PCC using a set of bacterial plasmids, as well as extracting and purifying the protein. It can potentially be used to develop therapeutics for PA, and can be used as a research tool for interrogating PCC's structure and function to better understand its role in metabolism.
PCC is necessary for the catabolism of the amino acids threonine, valine, isoleucine, and methionine, as well as cholesterol and some fatty acids. There are currently no treatments for PA beyond maintaining a strict diet that is devoid of threonine, valine, isoleucine, and methionine. The bacterial plasmids described by this technology allow for the production of both human and bacterial PCC in E. Coli, providing an essential research handle for understanding PCC's metabolic role and for developing potential treatments for PA.
This technology has been used to determine the crystal structure of the bacterial PCC holoenzyme and to compare it to other related holoenzymes.
Tech Ventures Reference: IR CU16014