Scientists at the Montreal Neurological Institute and Hospital – The Neuro, McGill University working with a team at Oxford University have uncovered the genetic defect underlying a group of rare genetic disorders.
Using a new technique that has revolutionized genetic studies, the teams determined that mutations in the RMND1 gene were responsible for severe neurodegenerative disorders, in two infants, ultimately leading to their early death. Although the teams' investigations dealt with an infant, their discovery also has implications for understanding the causes of later-onset neurological diseases.
The RMND1 gene encodes a protein that is an important component of the machinery in mitochondria which generates the chemical energy that all cells need to function. Mutations in genes affecting mitochondrial function are common causes of neurological and neuromuscular disorders in adults and children. It is estimated that one newborn baby out of 5000 is at risk for developing one of these disorders. Mortality among such cases is very high.
"Mitochondria are becoming a focus of research because it's clear they're involved in neurodegenerative disorders in a fairly big way," says Dr. Eric Shoubridge, an internationally recognized specialist on mitochondrial diseases at The Neuro and lead author of the paper published in The American Journal of Human Genetics. "For instance, we're finding that dysfunctional mitochondria may be at the heart of adult-onset disorders like Parkinson's and Alzheimer's disease."
Discovery of the mutations in the RMND1 gene involved using whole-exome sequencing at the McGill University and Genome Québec Innovation Centre. This technique allows all of the genes in the body that code for proteins to be sequenced and analyzed in a single experiment. At a cost of about $1000, whole-exome sequencing is much more economical than previous techniques in which lists of candidate genes had to be screened in the search for mutations. The technique is poised to change the face of genetic diagnosis, making testing more efficient and available.
"Parents who have had a child with a mitochondrial disorder and who are hesitating to have another child now have the possibility to know the cause of the disease. With genetic information, they have reproductive options like in vitro fertilization," says Dr. Shoubridge. The discovery of the RMND1 gene's role sheds light on disorders of mitochondrial energy metabolism, but therapies to alleviate or cure such disorders remain elusive. Dr. Shoubridge is hopeful that the discovery will encourage pharmaceutical interest. "Drug companies are starting to be interested in rare diseases and metabolic disorders like this. They're picking some genes as potential drug candidates."
The Neuro is an academic medical centre dedicated to neuroscience. As a research and teaching institute of McGill University, The Neuro is at the centre of the neuroscience mission of the McGill University Health Centre. The eminent neurosurgeon Wilder Penfield founded The Neuro in 1934. Since then, The Neuro has achieved international renown for its integration of research, outstanding patient care and advanced training. The Neuro has a world-class staff in cellular and molecular neuroscience, brain imaging, cognitive neuroscience, as well as in the study and treatment of epilepsy, multiple sclerosis and neuromuscular disorders. For more information, please visit www.theneuro.com.
Anita Kar | EurekAlert!
Multi-institutional collaboration uncovers how molecular machines assemble
02.12.2016 | Salk Institute
Fertilized egg cells trigger and monitor loss of sperm’s epigenetic memory
02.12.2016 | IMBA - Institut für Molekulare Biotechnologie der Österreichischen Akademie der Wissenschaften GmbH
A multi-institutional research collaboration has created a novel approach for fabricating three-dimensional micro-optics through the shape-defined formation of porous silicon (PSi), with broad impacts in integrated optoelectronics, imaging, and photovoltaics.
Working with colleagues at Stanford and The Dow Chemical Company, researchers at the University of Illinois at Urbana-Champaign fabricated 3-D birefringent...
In experiments with magnetic atoms conducted at extremely low temperatures, scientists have demonstrated a unique phase of matter: The atoms form a new type of quantum liquid or quantum droplet state. These so called quantum droplets may preserve their form in absence of external confinement because of quantum effects. The joint team of experimental physicists from Innsbruck and theoretical physicists from Hannover report on their findings in the journal Physical Review X.
“Our Quantum droplets are in the gas phase but they still drop like a rock,” explains experimental physicist Francesca Ferlaino when talking about the...
The Max Planck Institute for Physics (MPP) is opening up a new research field. A workshop from November 21 - 22, 2016 will mark the start of activities for an innovative axion experiment. Axions are still only purely hypothetical particles. Their detection could solve two fundamental problems in particle physics: What dark matter consists of and why it has not yet been possible to directly observe a CP violation for the strong interaction.
The “MADMAX” project is the MPP’s commitment to axion research. Axions are so far only a theoretical prediction and are difficult to detect: on the one hand,...
Broadband rotational spectroscopy unravels structural reshaping of isolated molecules in the gas phase to accommodate water
In two recent publications in the Journal of Chemical Physics and in the Journal of Physical Chemistry Letters, researchers around Melanie Schnell from the Max...
The efficiency of power electronic systems is not solely dependent on electrical efficiency but also on weight, for example, in mobile systems. When the weight of relevant components and devices in airplanes, for instance, is reduced, fuel savings can be achieved and correspondingly greenhouse gas emissions decreased. New materials and components based on gallium nitride (GaN) can help to reduce weight and increase the efficiency. With these new materials, power electronic switches can be operated at higher switching frequency, resulting in higher power density and lower material costs.
Researchers at the Fraunhofer Institute for Solar Energy Systems ISE together with partners have investigated how these materials can be used to make power...
16.11.2016 | Event News
01.11.2016 | Event News
14.10.2016 | Event News
02.12.2016 | Medical Engineering
02.12.2016 | Agricultural and Forestry Science
02.12.2016 | Physics and Astronomy