Navigation Links
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 activity of the LAD enzyme within the mitochondria.

The clinical course of LAD deficiency is variable, presenting in infancy as a neurological disease of varying severity, or later in life with life-threatening recurrent episodes of liver failure. Most LAD deficiency patients suffer from neurological symptoms.

In developing DERT, Rapoport proposed a novel but simple approach for the delivery of an artificial mitochondrial enzyme directly to its sub-cellular location. The approach is to fuse the manufactured LAD enzyme with a specific delivery component, which will then lead the LAD into the cells and their mitochondria. There, it will substitute for the mutated endogenous enzyme.

For the past four years, Rapoport, under the guidance of Hebrew University Prof. Haya Loberboum-Galski, has been experimenting in vitro on cells taken from patients suffering from LAD deficiency. The results have been highly positive. Experiments are also now being conducted on the in-vivo model of this disorder in LAD-deficient mice. Very promising preliminary results show the ability of this therapy to improve LAD enzymatic activity even in the mouse brain.

Rapoport's invention of enzyme replacement therapy for mitochondrial disorders is patented by Yissum, the Technology Transfer Company of the Hebrew University of Jerusalem. This invention possesses great potential to becoming the treatment of choice for various types of mitochondrial disorders and consequently encompasses a significant commercial potential, as today there is no known medical cure.


'/>"/>

Contact: Rebecca Zeffert
rebeccaz@savion.huji.ac.il
972-025-881-641
The Hebrew University of Jerusalem
Source:Eurekalert

Related biology news :

1. Antioxidant to retard wrinkles discovered by Hebrew University researcher
2. Hebrew SeniorLife researchers search for aging, osteoporosis genes
3. Five young Hebrew University scientists win first competitive EU grants
4. Electronic structure of DNA revealed for 1st time by Hebrew University and collaborating researchers
5. Hebrew University study opening new route for combating viruses
6. A study by the MUHC and McGill University opens a new door to understanding cancer
7. University of Pennsylvania researchers develop formula to gauge risk of disease clusters
8. University of Oregon researcher finds that on waters surface, nitric acid is not so tough
9. Bioengineers at University of Pennsylvania devise nanoscale system to measure cellular forces
10. Binghamton University researchers investigate evolving malaria resistance
11. Society for General Microbiology 161st Meeting, University of Edinburgh
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/26/2016)... Research and Markets has announced ... 2016-2020"  report to their offering.  , ,     (Logo: ... analysts forecast the global multimodal biometrics market to ... period 2016-2020.  Multimodal biometrics is being ... the healthcare, BFSI, transportation, automotive, and government for ...
(Date:4/13/2016)... CHICAGO , April 13, 2016  IMPOWER physicians ... are setting a new clinical standard in telehealth ... By leveraging the higi platform, IMPOWER patients can ... weight, pulse and body mass index, and, when they ... quick and convenient visit to a local retail location ...
(Date:3/22/2016)... India , March 22, 2016 /PRNewswire/ ... market research report "Electronic Sensors Market for Consumer ... Proximity, & Others), Application (Communication & IT, ... Geography - Global Forecast to 2022", published ... industry is expected to reach USD 26.76 ...
Breaking Biology News(10 mins):
(Date:6/27/2016)... DIEGO , June 27, 2016  Sequenom, Inc. ... committed to enabling healthier lives through the development of ... Court of the United States ... courts that the claims of Sequenom,s U.S. Patent No. ... patent eligibility criteria established by the Supreme Court,s Mayo ...
(Date:6/27/2016)... ... June 27, 2016 , ... Rolf K. Hoffmann, former ... of the University of North Carolina Kenan-Flagler Business School effective June ... UNC Kenan-Flagler, with a focus on the school’s international efforts, leading classes and ...
(Date:6/24/2016)... 2016 Epic Sciences unveiled a liquid ... to PARP inhibitors by targeting homologous recombination deficiency ... new test has already been incorporated into numerous ... types. Over 230 clinical trials are ... including PARP, ATM, ATR, DNA-PK and WEE-1. Drugs ...
(Date:6/23/2016)... ... June 23, 2016 , ... ... announce the launch of their brand, UP4™ Probiotics, into Target stores nationwide. The ... is proud to add Target to its list of well-respected retailers. This list ...
Breaking Biology Technology: