U of MN researchers link early brain development to adult-onset neurodegenerative disease
Researchers at the University of Minnesota's Institute for Human Genetics have shown for the first time that the severity of an adult neurodegenerative disease is tied to how well the brain developed shortly after birth.
The researchers used a mouse model for spinocerebellar ataxia type 1 (SCA 1), a fatal neurodegenerative disease that is associated with the loss of coordination that affects activities such as walking, speaking and swallowing. There is no treatment for this disease, and patients typically die 10-15 years after their first symptoms appear.
"We always suspected that something was going on with the SCA 1 mice developmentally," said Harry Orr, Ph.D., professor of genetics, cell biology and development. "Now, we have the data to support it."
The research will appear in the Nov. 17, 2006 issue of the journal Cell.
Orr and his team manipulated the mouse model for the disease so that the gene that causes SCA 1 could be turned on and off.
In one group of mice, they turned off the gene for approximately two weeks at the beginning of the mice's development; then it was turned back on. In the second group of mice, they left the gene on for the entire time.
After 12 weeks, the researchers observed the mice.
"The difference was dramatic," Orr said.
The mice in the group in which the gene was turned off appeared virtually normal, while the mice in the other group had difficulty standing and walking. Orr said that the discovery suggests that in the future, doctors may be able to target treatment to coincide with critical times in development, lessening the impact of a disease in which symptoms take years to appear.
Although SCA 1 appears later in life, it is possible to do genetic screening at birth to determine if a person is at risk for getting the disease in adulthood.
The researchers next will look into the specific molecular pathways involved in early brain development, Orr said. He added that that in the future, research into the proteins and protein expression may be translated into therapeutic approaches.
Last reviewed: By John M. Grohol, Psy.D. on 30 Apr 2016
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