Zellweger's syndrome is a form of peroxisome biogenesis disorder, a group of deadly genetic diseases that claim the lives of children usually before they reach their first birthday. Researchers have been stumped about how to make a multicellular model they can use to development treatments.
The chair of the Department of Cell Biology, Richard Rachubinksi, and his Ph.D student Fred Mast, with the help of Drosophila [fruit fly] expert Andrew Simmonds, have been successful in developing a model of Zellweger's syndrome. This syndrome is the most common type of peroxisome biogenesis disorder.
"Mating two parents that have the mutated gene gave us a mutant fly that mimicked the human phenotype," said Rachubinski. The fruit fly is ideal for medical research because its development can be studied from fertilization through to adulthood, and the development is much more rapid than in mice or humans.
"The periods that you can allow for development are much shorter in flies so you can look at things much more quickly," said Rachubinski. "You get two generations per month."
It is also less expensive to use Drosophila. As the research group moves forward testing compounds that could be used as pharmaceuticals to treat Zellweger's syndrome, they only have to use minute amounts compared to what would be needed for other laboratory models. And it helps that part of the study included a comprehensive gene analysis that will help them monitor the efficacy of compounds and point to new gene targets for pharmaceuticals.
This is a major step forward and it has clinicians at Johns Hopkins and McGill universities excited. They have paired up with the U of A basic scientists and hope to take what the researchers learn in flies right to patients.
"We have a plan all the way to the patient," said Rachubinski. "This really is what one calls translational research. It's going from basic molecular studies, to the hopeful development of compounds, to the application in patients."
"We hope it will be a cycle, in that we feed to the clinicians information which they will then use to generate more questions," said Simmonds. "We want them to then feed the questions right back for us to work it out."
For Rachubinski, this major advance, which is published in Disease Models & Mechanisms, is a great accomplishment. He has been working to understand peroxisome biogenesis disorders for almost 30 years.
"It's what I've worked for all my life and I hope to see in the next few years that we can actually move it on even farther and look towards the treatment of these patients," he said.
Quinn Phillips | EurekAlert!
New malaria analysis method reveals disease severity in minutes
14.08.2017 | University of British Columbia
New type of blood cells work as indicators of autoimmunity
14.08.2017 | Instituto de Medicina Molecular
Whether you call it effervescent, fizzy, or sparkling, carbonated water is making a comeback as a beverage. Aside from quenching thirst, researchers at the University of Illinois at Urbana-Champaign have discovered a new use for these "bubbly" concoctions that will have major impact on the manufacturer of the world's thinnest, flattest, and one most useful materials -- graphene.
As graphene's popularity grows as an advanced "wonder" material, the speed and quality at which it can be manufactured will be paramount. With that in mind,...
Physicists at the University of Bonn have managed to create optical hollows and more complex patterns into which the light of a Bose-Einstein condensate flows. The creation of such highly low-loss structures for light is a prerequisite for complex light circuits, such as for quantum information processing for a new generation of computers. The researchers are now presenting their results in the journal Nature Photonics.
Light particles (photons) occur as tiny, indivisible portions. Many thousands of these light portions can be merged to form a single super-photon if they are...
For the first time, scientists have shown that circular RNA is linked to brain function. When a RNA molecule called Cdr1as was deleted from the genome of mice, the animals had problems filtering out unnecessary information – like patients suffering from neuropsychiatric disorders.
While hundreds of circular RNAs (circRNAs) are abundant in mammalian brains, one big question has remained unanswered: What are they actually good for? In the...
An experimental small satellite has successfully collected and delivered data on a key measurement for predicting changes in Earth's climate.
The Radiometer Assessment using Vertically Aligned Nanotubes (RAVAN) CubeSat was launched into low-Earth orbit on Nov. 11, 2016, in order to test new...
A study led by scientists of the Max Planck Institute for the Structure and Dynamics of Matter (MPSD) at the Center for Free-Electron Laser Science in Hamburg presents evidence of the coexistence of superconductivity and “charge-density-waves” in compounds of the poorly-studied family of bismuthates. This observation opens up new perspectives for a deeper understanding of the phenomenon of high-temperature superconductivity, a topic which is at the core of condensed matter research since more than 30 years. The paper by Nicoletti et al has been published in the PNAS.
Since the beginning of the 20th century, superconductivity had been observed in some metals at temperatures only a few degrees above the absolute zero (minus...
16.08.2017 | Event News
04.08.2017 | Event News
26.07.2017 | Event News
18.08.2017 | Life Sciences
18.08.2017 | Physics and Astronomy
18.08.2017 | Materials Sciences