Featured Research

from universities, journals, and other organizations

Gene mutation discovery could explain brain disorders in children

Date:
June 10, 2014
Source:
Monash University
Summary:
Mutations in one of the brain's key genes could be responsible for impaired mental function in children born with an intellectual disability, researchers report. The research proves that the gene, TUBB5, is essential for a healthy functioning brain. Scientists believe that in the future this knowledge, combined with regenerative medicine techniques, could also aid the replacement of neurons in times of brain injury or disease.

TUBB5. “TUBB5 works like a type of scaffolding inside neurons, enabling them to shape their connections to other neurons, so it’s essential for healthy brain development. If the scaffolding is faulty, in this case if TUBB5 mutates, it can have serious consequences,” Dr Heng said.
Credit: Image courtesy of Monash University

Researchers have discovered that mutations in one of the brain's key genes could be responsible for impaired mental function in children born with an intellectual disability.

Related Articles


The research, published in the journal, Human Molecular Genetics, proves that the gene, TUBB5, is essential for a healthy functioning brain.

It's estimated that intellectual disability affects up to four per cent of people worldwide, and two per cent of all Australians. One of the ways in which intellectual disability occurs is through genetic mutations, which cause problems with normal fetal brain development.

During fetal brain development, TUBB5 is essential for the proper placement and wiring of new neurons. When the gene is mutated, the brain, which sends and receives messages to the rest of the body, is impaired.

Lead researcher, Dr Julian Heng, from the Australian Regenerative Medicine Institute (ARMI) at Monash University, said genetic mutations to TUBB5 could be responsible for a range of intellectual disabilities. It could also affect the development of basic motor skills such as walking.

"TUBB5 works like a type of scaffolding inside neurons, enabling them to shape their connections to other neurons, so it's essential for healthy brain development. If the scaffolding is faulty, in this case of TUBB5 mutates, it can have serious consequences," Dr Heng said.

These new findings build on the team's collaborative work with researchers in Austria, which led to the discovery of TUBB5 mutations in human brain disorders in 2012. By looking at just three unrelated patients with microcephaly, a rare brain disease in children, the team found striking similarities -- each had a mutation to TUBB5. The team also provided the first evidence that the TUBB5 mutations were responsible for each patient's disorder.

Dr Heng said the research could have important implications, not only for intellectual disabilities but also for a wide range of developmental disorders.

"Learning more about the TUBB5 gene and its mutations could reveal how it shapes the connections of neurons in normal and diseased brain states.

"We're just at the beginning of this work but if we can understand why and how mutations occur to TUBB5, we may even be able to repair these mutations. In the future, we believe this work will enable us to develop new therapies to transform people's lives," Dr Heng said.

The work may potentially lead to new information about the causes and possible treatments for other brain developmental syndromes, including autism, a condition that affects as many as 1 in 160 children.

Dr Heng said that because TUBB5 belongs to a family of genes which produce the scaffolding in neurons, it means that there is scope for further study into its impact.

"By learning what these scaffolding proteins do to help neurons make brain circuits, we might be able to pinpoint the underlying causes of a wide range of brain disorders in children, and develop more targeted treatments," Dr Heng said.

Scientists believe that in the future this knowledge, combined with regenerative medicine techniques, could also aid the replacement of neurons in times of brain injury or disease.

The next phase of the research will be to develop a working model to better understand how TUBB5 can be targeted for gene therapy.


Story Source:

The above story is based on materials provided by Monash University. Note: Materials may be edited for content and length.


Journal Reference:

  1. L. Ngo, M. Haas, Z. Qu, S. S. Li, J. Zenker, K. S. L. Teng, J. M. Gunnersen, M. Breuss, M. Habgood, D. A. Keays, J. I.-T. Heng. TUBB5 and its disease-associated mutations influence the terminal differentiation and dendritic spine densities of cerebral cortical neurons. Human Molecular Genetics, 2014; DOI: 10.1093/hmg/ddu238

Cite This Page:

Monash University. "Gene mutation discovery could explain brain disorders in children." ScienceDaily. ScienceDaily, 10 June 2014. <www.sciencedaily.com/releases/2014/06/140610205303.htm>.
Monash University. (2014, June 10). Gene mutation discovery could explain brain disorders in children. ScienceDaily. Retrieved February 28, 2015 from www.sciencedaily.com/releases/2014/06/140610205303.htm
Monash University. "Gene mutation discovery could explain brain disorders in children." ScienceDaily. www.sciencedaily.com/releases/2014/06/140610205303.htm (accessed February 28, 2015).

Share This


More From ScienceDaily



More Mind & Brain News

Saturday, February 28, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

The Best Foods to Battle Stress

The Best Foods to Battle Stress

Buzz60 (Feb. 26, 2015) If you&apos;re dealing with anxiety, there are a few foods that can help. Krystin Goodwin (@krystingoodwin) has the best foods to tame stress. Video provided by Buzz60
Powered by NewsLook.com
Sleeping Too Much Or Too Little Might Increase Stroke Risk

Sleeping Too Much Or Too Little Might Increase Stroke Risk

Newsy (Feb. 26, 2015) People who sleep more than eight hours per night are 45 percent more likely to have a stroke, according to a University of Cambridge study. Video provided by Newsy
Powered by NewsLook.com
Mayor Says District of Columbia to Go Ahead With Pot Legalization

Mayor Says District of Columbia to Go Ahead With Pot Legalization

Reuters - News Video Online (Feb. 25, 2015) Washington&apos;s mayor says the District of Columbia will move forward with marijuana legalization, despite pushback from Congress. Rough Cut (no reporter narration). Video provided by Reuters
Powered by NewsLook.com
Marijuana Nowhere Near As Deadly As Alcohol: Study

Marijuana Nowhere Near As Deadly As Alcohol: Study

Newsy (Feb. 25, 2015) A new study says marijuana is about 114 times less deadly than alcohol. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins