Mice with big brains provide insight into brain regeneration and developmental disorders

May 15, 2012
Ottawa scientist Dr. David Picketts created a strain of mice with large brains that may provide insight into brain regeneration and developmental disorders. Credit: Ottawa Hospital Research Institute

Scientists at the Ottawa Hospital Research Institute (OHRI) and the University of Ottawa (uOttawa) have discovered that mice that lack a gene called Snf2l have brains that are 35 per cent larger than normal. The research, led by Dr. David Picketts and published in the prestigious journal Developmental Cell, could lead to new approaches to stimulate brain regeneration and may provide important insight into developmental disorders such as autism and Rett syndrome.

Dr. Picketts and his team created the mice to learn more about Snf2l, which is known to play a role in packaging DNA and determining which genes are active versus inactive. They found that the mutant mice were completely normal, except that they had larger brains, more cells in all areas of the brain, and more actively dividing .

"This research represents a fundamental advance in our understanding of how the brain develops, and it also has important practical implications," said Dr. Picketts, Senior Scientist at OHRI and Associate Professor in the Faculty of Medicine at uOttawa. "If we could identify drugs that regulate Snfl2 activity, these could potentially be used to stimulate to help regenerate and repair damage in people who have suffered brain injuries or strokes. We're still at the early stages of this research, but the possibilities are very exciting."

The Snf2l mutant mice are also providing insight into developmental disorders that are associated with changes in . For example, by studying these mice, Dr. Picketts and his team found that Snf2l controls the expression of a gene called Foxg1, which causes the disorder Rett syndrome in some people. While the have high levels of Foxg1 and large brains, people with lack Foxg1 and have small brains. This research shows that Snf2l and Foxg1 work against each other to balance brain size. Autism is also commonly associated with changes in brain size (one third of autistic individuals have a larger brain), however no studies have yet provided a direct link between Snf2l and autism.

"The connections between Snf2l and brain developmental disorders are intriguing," said Dr. Picketts. "We're looking forward to further unravelling these connections and hopefully applying this research to help people who suffer from these conditions."

Explore further: Why does brain development diverge from normal in autism spectrum disorders?

Related Stories

Why does brain development diverge from normal in autism spectrum disorders?

April 13, 2011
Rett syndrome, a neurodevelopmental disorder on the autism spectrum, is marked by relatively normal development in infancy followed by a loss of loss of cognitive, social and language skills starting at 12 to 18 months of ...

Developmental disease is recreated in an adult model

June 2, 2011
A new study published today in the journal Science has shown that the childhood disorder Rett syndrome, can be reestablished in adult animals by "switching off" a critical disease causing gene in healthy adult animals. The ...

Recommended for you

Association found between abnormal cerebral connectivity and variability in the PPARG gene in developing preterm infants

December 12, 2017
(Medical Xpress)—A team of researchers with King's College London and the National Institute for Health Research Biomedical Research Centre, both in the U.K., has found what they describe as a strong association between ...

Large genetic study links tendency to undervalue future rewards with ADHD, obesity

December 11, 2017
Researchers at University of California San Diego School of Medicine have found a genetic signature for delay discounting—the tendency to undervalue future rewards—that overlaps with attention-deficit/hyperactivity disorder ...

Gene variants identified that may influence sexual orientation in men and boys

December 8, 2017
(Medical Xpress)—A large team of researchers from several institutions in the U.S. and one each from Australia and the U.K. has found two gene variants that appear to be more prevalent in gay men than straight men, adding ...

Disease caused by reduction of most abundant cellular protein identified

December 8, 2017
An international team of scientists and doctors has identified a new disease that results in low levels of a common protein found inside our cells.

Study finds genetic mutation causes 'vicious cycle' in most common form of amyotrophic lateral sclerosis

December 8, 2017
University of Michigan-led research brings scientists one step closer to understanding the development of neurodegenerative disorders such as ALS.

Mutations in neurons accumulate as we age: The process may explain normal cognitive decline and neurodegeneration

December 7, 2017
Scientists have wondered whether somatic (non-inherited) mutations play a role in aging and brain degeneration, but until recently there was no good technology to test this idea. A study published online today in Science, ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.