"Critical Genes" Identiied for Down Syndrome


Researchers reporting in the July 18 advanced online publication of Nature Neuroscience have identified the critical genetic aspects responsible for some components of Down Syndrome.

Down syndrome is a cause of mental retardation, early onset of Alzheimer’s, and other medical complications. Researchers have known that those with Down syndrome are associated with having an extra copy of chromosome 21. These are new critical genes.

Researchers identified “Olig1 and Olig2 as two genes specific to the critical region of chromosome 21 associated with Down syndrome by using a specifically-engineered modification of the golden standard Down syndrome mouse model, Ts65Dn.”


The extra chromosome has an inhibition aspect on cognitive abilities and by manipulating Olig1 and Olig2, researchers were able to change the neurons from inhibitory to excitatory making some drastic changes in neurological development in Down Syndrome.

Dr. Galdzicki, Ph.D., associate professor of Anatomy, Physiology and Genetics, USU, has said: … it is likely that additional genes are also involved in the effect. We hope the findings will lead to better strategies for early intervention, even during pregnancy, to reduce neurological consequence of Down syndrome.” He added “This study again highlights that research on Down syndrome can provide us with new insight into the mechanisms that regulate brain growth and may help with better understanding other neurodevelopmental disorders such as autism.”

The National Down Syndrome Society (NDSS) works “to be the national advocate for the value, acceptance and inclusion of people with Down syndrome.” Their website has many features including a section about Down syndrome, a listing of affiliates nationwide and research reports.

There are 275 affiliates nationwide that offer local parent support groups and connections with other organizations for services, products and support. “NDSS is a 501(c)(3) non-profit organization that raises funds from individuals, corporations, foundations and special events. In 2007, the annual budget was greater than $2,000,000.” According to the NDSS, there are more than 400,000 people living in the United States with Down syndrome. “Down syndrome is a genetic condition that occurs in one in every 733 births. It is the most frequently occurring chromosomal condition and is found in people of all races and economic levels.”

For more information about Down syndrome, please visit the NDSS website.


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