A new study by researchers at the University of North Carolina School of Medicine reveals how some nerve cells, called interneurons, navigate during the development of the cerebral cortex. Mutations in a key gene behind this navigation system underlie a rare neurological disorder called Joubert syndrome; a condition linked with autism spectrum disorders and brain structure malformations.
Eva Anton Lab, UNC School of Medicine
The left panel shows normal neuronal cell organization (red and green). Organization is lost when Arl13b gene is deleted (right panel).
The study was published online on Nov. 12, 2012 by the journal Developmental Cell.
“We were trying to understand how neurons get to the right place at the right time during brain development,” said senior study author Eva Anton, PhD, a professor in the UNC Neuroscience Center and the Department of Cell Biology and Physiology at the UNC School of Medicine.
To do that, the UNC researchers and their collaborator, Dr. Tamara Caspary, at Emory University tracked brain development in mice with and without a gene called Arl13b. They found that the gene, when functioning normally, allows interneurons to use an appendage called the primary cilium as a sensor.
These appendages are found on many types of cells, but scientists did not previously know what they were doing on developing neurons.
“We found that primary cilia play an important role in guiding neurons to their appropriate places during development so that the neurons can wire up appropriately later on,” said Anton. “It’s like an antenna that allows the neuron to read the signals that are out there and navigate to the right target location.”
Neurons in mice without the Arl13b gene or expressing mutant Arl13b found in Joubert syndrome patients essentially had a broken antenna, causing the cells to get lost on the way to their destinations.
Variants of the Arl13b gene are known to cause Joubert syndrome, which is characterized by brain malformations, abnormal eye and tongue movements, low muscle tone and mental retardation. This is one of the first studies to uncover how mutations of this gene actually disrupt brain development.
“Ultimately, if you’re going to come up with therapeutic solutions, it’s important to understand the biology of the disease,” said Anton. “This contributes to our understanding of the biological processes that are disrupted in Joubert syndrome patients.”
Co-authors include Holden Higginbotham, Tae-Yeon Eom, Amelia Bachleda, Joshua Hirt, Vladimir Gukassyana and Corey Cusack from UNC, Laura E. Mariani and Tamara Caspary of Emory University, and Cary Lai of Indiana University, Bloomington.
Les Lang | Newswise Science News
Research team creates new possibilities for medicine and materials sciences
22.01.2018 | Humboldt-Universität zu Berlin
Saarland University bioinformaticians compute gene sequences inherited from each parent
22.01.2018 | Universität des Saarlandes
On the way to an intelligent laboratory, physicists from Innsbruck and Vienna present an artificial agent that autonomously designs quantum experiments. In initial experiments, the system has independently (re)discovered experimental techniques that are nowadays standard in modern quantum optical laboratories. This shows how machines could play a more creative role in research in the future.
We carry smartphones in our pockets, the streets are dotted with semi-autonomous cars, but in the research laboratory experiments are still being designed by...
What enables electrons to be transferred swiftly, for example during photosynthesis? An interdisciplinary team of researchers has worked out the details of how...
For the first time, scientists have precisely measured the effective electrical charge of a single molecule in solution. This fundamental insight of an SNSF Professor could also pave the way for future medical diagnostics.
Electrical charge is one of the key properties that allows molecules to interact. Life itself depends on this phenomenon: many biological processes involve...
At the JEC World Composite Show in Paris in March 2018, the Fraunhofer Institute for Laser Technology ILT will be focusing on the latest trends and innovations in laser machining of composites. Among other things, researchers at the booth shared with the Aachen Center for Integrative Lightweight Production (AZL) will demonstrate how lasers can be used for joining, structuring, cutting and drilling composite materials.
No other industry has attracted as much public attention to composite materials as the automotive industry, which along with the aerospace industry is a driver...
Scientists at Tokyo Institute of Technology (Tokyo Tech) and Tohoku University have developed high-quality GFO epitaxial films and systematically investigated their ferroelectric and ferromagnetic properties. They also demonstrated the room-temperature magnetocapacitance effects of these GFO thin films.
Multiferroic materials show magnetically driven ferroelectricity. They are attracting increasing attention because of their fascinating properties such as...
08.01.2018 | Event News
11.12.2017 | Event News
08.12.2017 | Event News
22.01.2018 | Materials Sciences
22.01.2018 | Earth Sciences
22.01.2018 | Life Sciences