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 model system for experimenting with chemicals that suppress the symptoms of Lowe syndrome in the hope of one day finding a cure.”
The research is being funded by the Lowe Syndrome Trust, which was set up in June 2000 by Lorraine Thomas after her son, Oscar, now aged 14, was diagnosed with the condition in 1999.
No government support or UK research of the syndrome was available at that time and, for the last seven years, Lorraine has devoted her life to raising money for the charity.
Lorraine said: "The Lowe Syndrome Trust is delighted to award a grant to The University of Manchester to further research into this rare disease. Sadly, 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."
Since starting the charity Lorraine has persuaded many celebrities to back her cause, including television presenter Jonathan Ross.
Jonathan said: "As a trustee I am delighted that we are able to fund the Manchester project. We hope that this research will entice more interest into the disease from research scientists worldwide."
Team discovers how bacteria exploit a chink in the body's armor
20.01.2017 | University of Illinois at Urbana-Champaign
Rabies viruses reveal wiring in transparent brains
19.01.2017 | Rheinische Friedrich-Wilhelms-Universität Bonn
An important step towards a completely new experimental access to quantum physics has been made at University of Konstanz. The team of scientists headed by...
Yersiniae cause severe intestinal infections. Studies using Yersinia pseudotuberculosis as a model organism aim to elucidate the infection mechanisms of these...
Researchers from the University of Hamburg in Germany, in collaboration with colleagues from the University of Aarhus in Denmark, have synthesized a new superconducting material by growing a few layers of an antiferromagnetic transition-metal chalcogenide on a bismuth-based topological insulator, both being non-superconducting materials.
While superconductivity and magnetism are generally believed to be mutually exclusive, surprisingly, in this new material, superconducting correlations...
Laser-driving of semimetals allows creating novel quasiparticle states within condensed matter systems and switching between different states on ultrafast time scales
Studying properties of fundamental particles in condensed matter systems is a promising approach to quantum field theory. Quasiparticles offer the opportunity...
Among the general public, solar thermal energy is currently associated with dark blue, rectangular collectors on building roofs. Technologies are needed for aesthetically high quality architecture which offer the architect more room for manoeuvre when it comes to low- and plus-energy buildings. With the “ArKol” project, researchers at Fraunhofer ISE together with partners are currently developing two façade collectors for solar thermal energy generation, which permit a high degree of design flexibility: a strip collector for opaque façade sections and a solar thermal blind for transparent sections. The current state of the two developments will be presented at the BAU 2017 trade fair.
As part of the “ArKol – development of architecturally highly integrated façade collectors with heat pipes” project, Fraunhofer ISE together with its partners...
19.01.2017 | Event News
10.01.2017 | Event News
09.01.2017 | Event News
20.01.2017 | Awards Funding
20.01.2017 | Materials Sciences
20.01.2017 | Life Sciences