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UT-Houston's Northrup and colleagues uncover genetic link to spina bifida
Date:12/18/2007

HOUSTON (Dec. 18, 2007)Researchers at The University of Texas Medical School at Houston have discovered an association between genes regulating glucose metabolism and spina bifida. The decade-long study looked at more than 1,500 DNA samples from parents and their children with that birth defect.

UT Medical School researchers tested variants in a dozen genes that take part in glucose metabolism to look for a link between genetic variation in affected children and spina bifida. Each affected childs parents were also studied, as well as DNA from unaffected control samples. The samples were gathered from study participants in Houston, Los Angeles and Toronto.

Published in the Jan. 2008 issue of the journal Reproductive Sciences, the study titled Genes in Glucose Metabolism and Association with Spina Bifida, found an association between variants in three glucose metabolism genes and spina bifida. Glucose metabolism is the way the body uses its major fuel, which is sugar.

We are trying to find out what causes this neural tube defect. It has been recognized through epidemiological studies for a number of years that there was a connection between high glucose levels, either due to maternal diabetes or obesity and having a child with spina bifida, said co-author Hope Northrup, M.D., professor and director of medical genetics in the Department of Pediatrics at the UT Medical School. Our goal is to identify variations in specific genes of glucose metabolism that are important in the process, thus enabling us to more specifically determine the underlying problem.

Spina bifida is the most common permanently disabling birth defect in the United States, according to the Spina Bifida Association. It happens when the spine of the baby fails to close during the first months of pregnancy. It occurs in seven out of 10,000 births in the United States. According to the Spina Bifida Association of Texas, a Hispanic woman is twice as likely
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Contact: Melissa McDonald
Melissa.E.McDonald@uth.tmc.edu
713-500-3030
University of Texas Health Science Center at Houston  
Source:Eurekalert

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