Researching the genes of Down Syndrome
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FOR IMMEDIATE RELEASE Jan. 7, 1998
BATON ROUGE -- Genes and DNA are often described as blueprints of life.
DNA is a database of information with genes being the actually data. Each gene holds specific information such as the color of one's eye.
A Louisiana State University researcher has developed a special technique that allows him to not only look at these genes, but more importantly to determine if they are mutated. A mutated gene is abnormal and does not provide the correct blueprint information
Because of his unique procedure Vincent Wilson has been selected by Trisomy 21 Research Foundation, a national Down Syndrome research group, to use his unique technique to help make advances in this devastating genetic disease.
Down Syndrome occurs when the embryo first forms, at the time when the egg and the sperm come together. The child develops with an extra chromosome, which means that the child has too much DNA or information. With too much information, the body does not develop properly leaving a Down child with a low IQ, some physical-locomotive troubles and often a poorly developed immune system. Those with the disease have a shortened lifespan and are prone to develop Alzheimer's.
The research group, which includes the country's foremost experts on Down Syndrome, is studying the effects that nutrition can have on improving the quality of life for a Down child.
The leader of the study, David Swenson of Saginaw Valley University, Saginaw, Mich., believes that a Down child's retardation does not become acute until after birth. And then, as time goes on, the disease slowly takes over the child's faculties.
"Children receive vital nutrients, like folic acid, prior to birth from the mother. But once born, the Down child has trouble handling his folate metabolism properly. Folic acid is needed for cell growth and the formation of nucleotides, vital components of DNA. There are a couple of enzymes that are key to how he handles folate metabolism. And it's the genes for those enzymes that we are going after," Wilson said.
The inability of the body to utilize these nutrients often leads to acute medical, physical and mental problems associated with Down Syndrome. The Trisomy 21 Research Foundation believes that by supplementing the child's nutritional intake, the effects of the syndrome can be made milder.
Wilson and the other researchers are trying to see if they can show a correlation with severity of disease to the presence of mutations in the genes of the Down Syndrome affected individual.
Wilson is using his special technique that ëtunes into' specific sections of gene. Using PCR (polymerase chain reaction) he makes hundreds of copies of genes to study, enabling him to look specifically at whether a mutation exist. PCR is a procedure that copies a specific section of DNA and makes a thousand or million or more duplicate sections of the DNA. Then using even more specific molecular procedures, specific parts of these duplicate sections of the DNA can be studied for mutations.
"It's like looking for a specific house from an airplane. Obviously since you're so high up, it's easer to find large clumps of houses than just one house. So essentially we are making copies of one house. We are building large neighborhoods of the exact same house so we can see it better."
By applying special biochemicals and molecular techniques, Wilson is able to identify the different properties of the gene. Using this ëmagnification' method, he can detect and identify the gene mutations.
In an organized plan, DNA samples from Down Syndrome affected individuals and family members will be sent to Wilson from around the country.
"I said the Down child and the family members because there has been a proposal saying ëif the mother has one of these mutations in her genes, then she may be more likely to have a Down child. There is no evidence for this theory at this time. However, that would be phenomenal if we could find a marker of increased risk for having a Down Syndrome child."
The Louisiana State University researcher has been using this technique for cancer research and toxicology research for years. "It's extremely sensitive and specific, and I have the techniques to address problems like this very easily. It's just a matter of designing the technique to work with this Down Syndrome study."
Wilson has spent six years running DNA diagnostic clinical services at the Children's Hospital in Denver and five years at the National Cancer Institute. He was the chair of the Molecular Committee of the Mountain States Region Genetics Services Network and has been involved in genetic problems and studying genetic diseases for more than 20 years. He is now Associate Professor and the Claiborne Chair of Environmental Toxicology at Louisiana State University.
"We're not looking for a cure, that's not reasonable right now. But we feel pretty certain that we can use this research to help those with Down Syndrome to function better on a daily basis." -30-
Contact
Stephen Loy
Louisiana State University News Service
(W) 504 388-8654
(H) 504-677-8821
[email protected]
Vince Wilson
(W) 504-388-1753
(Voice & Digital Pager) 1-800-765-7170
[email protected]
(Louisiana State University news releases can be found through the LSU home page at http://www.lsu.edu or directly at http://appl003.lsu.edu/unv002.nsf. If you would like news releases e-mailed to you, send a message to [email protected].)
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