Genes Linked to Spina Bifida Discovered

A research has shown that a gene regulating glucose metabolism is associated with spina bifida. It is a condition in which the spine of baby fails to close during the first months of pregnancy.

According to the Spina Bifida Association of Texas, Spina bifida is the most common permanently disabling birth defect in the United States.

It occurs in about seven out of 10,000 births in the United States. A Hispanic woman is twice as likely to have a child with this crippling birth defect. In Texas, nearly two out of every 1,000 babies born have spina bifida.

The research was carried out at The University of Texas Medical School at Houston and was led by Christina Davidson, M.D., a fellow in the Department of Obstetrics, Gynecology and Reproductive Sciences at the UT Medical School.

The study which lasted a decade examined more than 1,500 DNA samples from parents and their children with that birth defect.

The researchers tested variants in a dozen genes taking part in glucose metabolism in order to find a link between genetic variation in affected children and spina bifida.

The parents of each affected child were also studied, and also DNA from unaffected control samples. The samples were gathered from study participants in Houston, Los Angeles and Toronto.

The study discovered an association between variants in three glucose metabolism genes and spina bifida.

Glucose metabolism is the mechanism through which the body uses sugar, its major fuel.

“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.

He added: “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.”

He also said that the study holds up why there’s a need for women to maintain a healthy weight throughout their childbearing years, and beyond.

“This is important from a practical standpoint because neural tube defects are more common in pregnancies complicated by maternal diabetes and maternal obesity, and our study suggests a mechanism for this association,” said Manju Monga, M.D., professor and director of maternal and fetal medicine in the medical school’s Department of Obstetrics, Gynecology and Reproductive Sciences.

She said: “In the United States, Mexican-American women have the highest rates of neural tube defects and they are also at increased risk for obesity and adult-onset diabetes, so this study may be especially relevant to pregnant women in Texas.”

There’s one more way for women to reduce their risk of having a baby with spina bifida is to take 400 micrograms of folic acid daily. The number of cases could be reduced by as much as 70 pct.

The study titled “Genes in Glucose Metabolism and Association with Spina Bifida,” is published in the January issue of the journal Reproductive Sciences.

Source-ANI
LIN/P