Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:


Watching the Developing Brain, Scientists Glean Clues on Neurological Disorder

As the brain develops, each neuron must find its way to precisely the right spot to weave the intricate network of links the brain needs to function. Like the wiring in a computer, a few misplaced connections can throw off functioning for an entire segment of the brain.

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
Further information:

More articles from Life Sciences:

nachricht Novel mechanisms of action discovered for the skin cancer medication Imiquimod
21.10.2016 | Technische Universität München

nachricht Second research flight into zero gravity
21.10.2016 | Universität Zürich

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: New 3-D wiring technique brings scalable quantum computers closer to reality

Researchers from the Institute for Quantum Computing (IQC) at the University of Waterloo led the development of a new extensible wiring technique capable of controlling superconducting quantum bits, representing a significant step towards to the realization of a scalable quantum computer.

"The quantum socket is a wiring method that uses three-dimensional wires based on spring-loaded pins to address individual qubits," said Jeremy Béjanin, a PhD...

Im Focus: Scientists develop a semiconductor nanocomposite material that moves in response to light

In a paper in Scientific Reports, a research team at Worcester Polytechnic Institute describes a novel light-activated phenomenon that could become the basis for applications as diverse as microscopic robotic grippers and more efficient solar cells.

A research team at Worcester Polytechnic Institute (WPI) has developed a revolutionary, light-activated semiconductor nanocomposite material that can be used...

Im Focus: Diamonds aren't forever: Sandia, Harvard team create first quantum computer bridge

By forcefully embedding two silicon atoms in a diamond matrix, Sandia researchers have demonstrated for the first time on a single chip all the components needed to create a quantum bridge to link quantum computers together.

"People have already built small quantum computers," says Sandia researcher Ryan Camacho. "Maybe the first useful one won't be a single giant quantum computer...

Im Focus: New Products - Highlights of COMPAMED 2016

COMPAMED has become the leading international marketplace for suppliers of medical manufacturing. The trade fair, which takes place every November and is co-located to MEDICA in Dusseldorf, has been steadily growing over the past years and shows that medical technology remains a rapidly growing market.

In 2016, the joint pavilion by the IVAM Microtechnology Network, the Product Market “High-tech for Medical Devices”, will be located in Hall 8a again and will...

Im Focus: Ultra-thin ferroelectric material for next-generation electronics

'Ferroelectric' materials can switch between different states of electrical polarization in response to an external electric field. This flexibility means they show promise for many applications, for example in electronic devices and computer memory. Current ferroelectric materials are highly valued for their thermal and chemical stability and rapid electro-mechanical responses, but creating a material that is scalable down to the tiny sizes needed for technologies like silicon-based semiconductors (Si-based CMOS) has proven challenging.

Now, Hiroshi Funakubo and co-workers at the Tokyo Institute of Technology, in collaboration with researchers across Japan, have conducted experiments to...

All Focus news of the innovation-report >>>



Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

Agricultural Trade Developments and Potentials in Central Asia and the South Caucasus

14.10.2016 | Event News

World Health Summit – Day Three: A Call to Action

12.10.2016 | Event News

Latest News

Resolving the mystery of preeclampsia

21.10.2016 | Health and Medicine

Stanford researchers create new special-purpose computer that may someday save us billions

21.10.2016 | Information Technology

From ancient fossils to future cars

21.10.2016 | Materials Sciences

More VideoLinks >>>