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Hebrew University develops novel approach for treating mitochondrial disorders
Date:6/30/2008

A novel concept for the treatment of mitochondrial disorders using directed enzyme replacement therapy (DERT) has won for a Hebrew University of Jerusalem doctoral candidate one of this year's Kaye Innovation Awards. The awards were presented at this year's 71st meeting of the Hebrew University Board of Governors.

DERT is a therapeutic approach to metabolic disorders whereby the deficient or absent enzyme is artificially manufactured with the addition of a delivery component and is administered to patients on a regular basis.

Mitochondria are special little organelles within the cells (organelles are small, unique structures within the cells that perform specialized tasks). The mitochondria play a critical role - most of the numerous biochemical pathways and reactions are performed within them. However, their most important job is to generate energy out of food and to discard toxic metabolites. (Metabolites are substances produced by a metabolic reaction.)

Inside the mitochondria there are thousands of enzymes that carry out all these reactions. If one of these enzymes is damaged or deficient due to a genetic mutation, a mitochondrial metabolic disorder occurs. Modern medicine offers no cure for mitochondrial disorders (among which are mitochondrial myopathies, maple syrup urine disease and many others). The standard treatment is only palliative, with the aim of improving, postponing or circumventing the massive damage caused by the over- production of free radicals, the accumulation of toxic metabolites and the low rate of energy production.

Matan Rapoport, a Ph.D. student in the Department of Cellular Biochemistry and Human Genetics at the Hebrew University Faculty of Medicine, demonstrated the effectiveness of DERT by treating the mitochondrial disorder lipoamide dehydrogenase (LAD) deficiency. LAD deficiency is an inherited recessive disorder, which results in extensive metabolic disturbances due to a reduction in the
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Contact: Rebecca Zeffert
rebeccaz@savion.huji.ac.il
972-025-881-641
The Hebrew University of Jerusalem
Source:Eurekalert

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