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."
Unique brain 'fingerprint' can predict drug effectiveness
11.07.2018 | McGill University
Direct conversion of non-neuronal cells into nerve cells
03.07.2018 | Universitätsmedizin der Johannes Gutenberg-Universität Mainz
For the first time ever, scientists have determined the cosmic origin of highest-energy neutrinos. A research group led by IceCube scientist Elisa Resconi, spokesperson of the Collaborative Research Center SFB1258 at the Technical University of Munich (TUM), provides an important piece of evidence that the particles detected by the IceCube neutrino telescope at the South Pole originate from a galaxy four billion light-years away from Earth.
To rule out other origins with certainty, the team led by neutrino physicist Elisa Resconi from the Technical University of Munich and multi-wavelength...
For the first time a team of researchers have discovered two different phases of magnetic skyrmions in a single material. Physicists of the Technical Universities of Munich and Dresden and the University of Cologne can now better study and understand the properties of these magnetic structures, which are important for both basic research and applications.
Whirlpools are an everyday experience in a bath tub: When the water is drained a circular vortex is formed. Typically, such whirls are rather stable. Similar...
Physicists working with Roland Wester at the University of Innsbruck have investigated if and how chemical reactions can be influenced by targeted vibrational excitation of the reactants. They were able to demonstrate that excitation with a laser beam does not affect the efficiency of a chemical exchange reaction and that the excited molecular group acts only as a spectator in the reaction.
A frequently used reaction in organic chemistry is nucleophilic substitution. It plays, for example, an important role in in the synthesis of new chemical...
Optical spectroscopy allows investigating the energy structure and dynamic properties of complex quantum systems. Researchers from the University of Würzburg present two new approaches of coherent two-dimensional spectroscopy.
"Put an excitation into the system and observe how it evolves." According to physicist Professor Tobias Brixner, this is the credo of optical spectroscopy....
Ultra-short, high-intensity X-ray flashes open the door to the foundations of chemical reactions. Free-electron lasers generate these kinds of pulses, but there is a catch: the pulses vary in duration and energy. An international research team has now presented a solution: Using a ring of 16 detectors and a circularly polarized laser beam, they can determine both factors with attosecond accuracy.
Free-electron lasers (FELs) generate extremely short and intense X-ray flashes. Researchers can use these flashes to resolve structures with diameters on the...
13.07.2018 | Event News
12.07.2018 | Event News
03.07.2018 | Event News
16.07.2018 | Physics and Astronomy
16.07.2018 | Life Sciences
16.07.2018 | Earth Sciences