Jerusalem: Enzyme replacement for mitochrondrial diseases

Research lead and Development opportunity

A novel approach to treating mitochondrial disorders using directed enzyme replacement therapy (DERT) has been patented by Yissum, the technology transfer company of the Hebrew University of Jerusalem. The work has also won a Kaye Innovation Award, awarded annually by the university, for its inventor.

The DERT approach involves treating mitochondrial disorders by linking a manufactured version of the defective enzyme to an (unspecified) targeting mechanism, which delivers the artificial enzyme directly into mitochondria.

Mitochondria carry out a range of functions, the most critical of which are to generate energy and to discard toxic metabolites. They produce a range of enzymes to carry out these reactions, and if one is damaged or mutated a mitochondrial metabolic disorder occurs.

At present there are no cures for mitochondrial disorders and the standard, palliative, treatment aims to postpone, or circumvent the damage caused by the over-production of free radicals, the accumulation of toxic metabolites and the low rate of energy production.

Matan Rapoport of Department of Cellular Biochemistry and Human Genetics at the Hebrew University Faculty of Medicine, and colleagues, has shown the effectiveness of DERT in in vitro and mouse models of the mitochondrial disorder lipoamide dehydrogenase deficiency, an inherited recessive disorder. He says the technique is relevant to other mitochondrial disorders.