Fish study to understand disorder
Updated on 07 February 2008
Scientists are to study zebrafish in a bid to understand the cause of a rare incurable genetic disorder which only affects boys.
A University of Manchester team will study Lowe Syndrome, which affects one in 500,000 boys.
Dr Martin Lowe, who will lead the research, said: "Lowe syndrome is a rare disorder that produces cataracts of the eyes, defects in brain development and kidney problems in young male sufferers. 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 a £72,000 grant from 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.
Dr Lowe said Lowe Syndrome - first outlined by US scientists in 1952 - arises from a mutation in the gene, which is involved in degrading fat soluble molecules in the body called lipids.
A pilot study carried out by Dr Lowe and his team found that OCRL1 works in a similar manner in zebrafish as it does in humans.
Dr Lowe 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 model system for experimenting with chemicals that suppress the symptoms of Lowe syndrome in the hope of one day finding a cure."
The Lowe Syndrome Trust was set up by Lorraine Thomas after her son Oscar, 14, was diagnosed with the condition in 1999.
Mrs Thomas said: "Due to lack of awareness and funding, many children suffering from this disorder only live until their teenage years. The objective of the Trust is to fund medical research that will eventually lead to the development of drugs to better regulate the metabolic imbalance of the disease and eventually find a cure."
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