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Might fish provide Lowe-down on boyhood disease?
Date:2/7/2008

Scientists have been awarded 72,000 to study zebrafish in a bid to understand the causes of an incurable genetic disorder in humans.

The University of Manchester team will use the model organism to investigate Lowe syndrome, an inherited complaint affecting only boys.

Lowe syndrome is a rare disorder that produces cataracts of the eyes, defects in brain development and kidney problems in young male sufferers, said Dr Martin Lowe, who will head the research.

Life expectancy is short due to complications associated with the disease, which can cause blindness, arthritis, rickets, mental impairment, development delay, tooth and bone decay and kidney failure.

The research funded by the Lowe Syndrome Trust will focus on one particular gene, OCRL1, which scientists have identified as being a key factor in the cause of the condition.

Lowe syndrome arises from a mutation in OCRL1, which is a gene found on the male X-chromosome involved in degrading fat-soluble molecules in the body called lipids, said Dr Lowe, who is based in the Faculty of Life Sciences.

Although significant progress has been made to increase our understanding of OCRL1, we still do not know what processes it regulates. Furthermore, we have not been able to deduce how loss of OCRL1 brings about the physical changes associated with Lowe syndrome.

One of the difficulties earlier studies have faced is finding a suitable model system to explore the mechanisms underlying the disease. But in a pilot study, Dr Lowe and his team found that OCRL1 works in a similar manner in zebrafish as it does in humans.

He said: Zebrafish offer a number of advantages over other model systems and we plan to extend our earlier analysis to further scrutinise the role of OCRL1 in development, focusing initially on the brain but also examining the other tissues affected in Lowe syndrome.

In the long term it is hoped that zebrafish will serve as a
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Contact: Aeron Haworth
aeron.haworth@manchester.ac.uk
44-161-275-8383
University of Manchester
Source:Eurekalert  

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