Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:


Might fish provide Lowe-down on boyhood disease?

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 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."

Aeron Haworth | alfa
Further information:

More articles from Health and Medicine:

nachricht NIH scientists describe potential antibody treatment for multidrug-resistant K. pneumoniae
14.03.2018 | NIH/National Institute of Allergy and Infectious Diseases

nachricht Researchers identify key step in viral replication
13.03.2018 | University of Pittsburgh Schools of the Health Sciences

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Locomotion control with photopigments

Researchers from Göttingen University discover additional function of opsins

Animal photoreceptors capture light with photopigments. Researchers from the University of Göttingen have now discovered that these photopigments fulfill an...

Im Focus: Surveying the Arctic: Tracking down carbon particles

Researchers embark on aerial campaign over Northeast Greenland

On 15 March, the AWI research aeroplane Polar 5 will depart for Greenland. Concentrating on the furthest northeast region of the island, an international team...

Im Focus: Unique Insights into the Antarctic Ice Shelf System

Data collected on ocean-ice interactions in the little-researched regions of the far south

The world’s second-largest ice shelf was the destination for a Polarstern expedition that ended in Punta Arenas, Chile on 14th March 2018. Oceanographers from...

Im Focus: ILA 2018: Laser alternative to hexavalent chromium coating

At the 2018 ILA Berlin Air Show from April 25–29, the Fraunhofer Institute for Laser Technology ILT is showcasing extreme high-speed Laser Material Deposition (EHLA): A video documents how for metal components that are highly loaded, EHLA has already proved itself as an alternative to hard chrome plating, which is now allowed only under special conditions.

When the EU restricted the use of hexavalent chromium compounds to special applications requiring authorization, the move prompted a rethink in the surface...

Im Focus: Radar for navigation support from autonomous flying drones

At the ILA Berlin, hall 4, booth 202, Fraunhofer FHR will present two radar sensors for navigation support of drones. The sensors are valuable components in the implementation of autonomous flying drones: they function as obstacle detectors to prevent collisions. Radar sensors also operate reliably in restricted visibility, e.g. in foggy or dusty conditions. Due to their ability to measure distances with high precision, the radar sensors can also be used as altimeters when other sources of information such as barometers or GPS are not available or cannot operate optimally.

Drones play an increasingly important role in the area of logistics and services. Well-known logistic companies place great hope in these compact, aerial...

All Focus news of the innovation-report >>>



Industry & Economy
Event News

Ultrafast Wireless and Chip Design at the DATE Conference in Dresden

16.03.2018 | Event News

International Tinnitus Conference of the Tinnitus Research Initiative in Regensburg

13.03.2018 | Event News

International Virtual Reality Conference “IEEE VR 2018” comes to Reutlingen, Germany

08.03.2018 | Event News

Latest News

Wandering greenhouse gas

16.03.2018 | Earth Sciences

'Frequency combs' ID chemicals within the mid-infrared spectral region

16.03.2018 | Physics and Astronomy

Biologists unravel another mystery of what makes DNA go 'loopy'

16.03.2018 | Life Sciences

Science & Research
Overview of more VideoLinks >>>