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Potential drug target in sight for rare genetic disease
Date:11/14/2013

Medical researchers at the University of Alberta have discovered the structure of a potential drug target for a rare genetic disease, paving the way for an alternative treatment for the condition.

Faculty of Medicine & Dentistry researcher Michael James and his team recently published their findings about MPS I (Mucopolysaccharidosis I) in the peer-reviewed journal, Nature Chemical Biology. Children born with a severe form of this disease usually die before they are 10 years old, while those with less severe forms can live well into adulthood. Symptoms can include improperly formed bones and teeth, carpal tunnel syndrome, an enlarged spleen, hearing or vision problems, distinct facial characteristics, heart problems and mental delays. MPS I affects about one in 100,000 people.

The human body continually churns out building blocks that rebuild various parts of the body, such as bone and cartilage. For example, bones in the body are rebuilt every seven years.

"Your body has to have a way of doing this, so that there is a breakdown of bone and then a production of the bone building-blocks," said research associate and team member Jiang Yin. He explained that with MPS I, the body can't complete this process due to a malfunctioning enzyme.

The gene responsible for creating this enzyme and directing its work is mutated in patients who have the disease. In fact, more than 100 mutations in this gene can cause the disease and impact its severity.

In order to better understand MPS I, researchers have been trying to figure out the three-dimensional structure of this important enzyme. James's team was the first to determine the 3-D structures that link specific defects in the enzyme to specific symptoms of the disease and specific genetic mutations.

"Now that we know how this enzyme functions and where the mutations are, the sites of the mutations can now be related to the disease symptoms" said James. "We've identified a drug target. The
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Contact: Raquel Maurier
raquel.maurier@ualberta.ca
780-492-5986
University of Alberta Faculty of Medicine & Dentistry
Source:Eurekalert

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