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
Flavins keep a handy helper in their pocket
25.04.2018 | University of Freiburg
Complete skin regeneration system of fish unraveled
24.04.2018 | Tokyo Institute of Technology
At the Hannover Messe 2018, the Bundesanstalt für Materialforschung und-prüfung (BAM) will show how, in the future, astronauts could produce their own tools or spare parts in zero gravity using 3D printing. This will reduce, weight and transport costs for space missions. Visitors can experience the innovative additive manufacturing process live at the fair.
Powder-based additive manufacturing in zero gravity is the name of the project in which a component is produced by applying metallic powder layers and then...
Physicists at the Laboratory for Attosecond Physics, which is jointly run by Ludwig-Maximilians-Universität and the Max Planck Institute of Quantum Optics, have developed a high-power laser system that generates ultrashort pulses of light covering a large share of the mid-infrared spectrum. The researchers envisage a wide range of applications for the technology – in the early diagnosis of cancer, for instance.
Molecules are the building blocks of life. Like all other organisms, we are made of them. They control our biorhythm, and they can also reflect our state of...
University of Connecticut researchers have created a biodegradable composite made of silk fibers that can be used to repair broken load-bearing bones without the complications sometimes presented by other materials.
Repairing major load-bearing bones such as those in the leg can be a long and uncomfortable process.
Study published in the journal ACS Applied Materials & Interfaces is the outcome of an international effort that included teams from Dresden and Berlin in Germany, and the US.
Scientists at the Helmholtz-Zentrum Dresden-Rossendorf (HZDR) together with colleagues from the Helmholtz-Zentrum Berlin (HZB) and the University of Virginia...
Novel highly efficient and brilliant gamma-ray source: Based on model calculations, physicists of the Max PIanck Institute for Nuclear Physics in Heidelberg propose a novel method for an efficient high-brilliance gamma-ray source. A giant collimated gamma-ray pulse is generated from the interaction of a dense ultra-relativistic electron beam with a thin solid conductor. Energetic gamma-rays are copiously produced as the electron beam splits into filaments while propagating across the conductor. The resulting gamma-ray energy and flux enable novel experiments in nuclear and fundamental physics.
The typical wavelength of light interacting with an object of the microcosm scales with the size of this object. For atoms, this ranges from visible light to...
13.04.2018 | Event News
12.04.2018 | Event News
09.04.2018 | Event News
25.04.2018 | Physics and Astronomy
25.04.2018 | Physics and Astronomy
25.04.2018 | Information Technology