PAX3 Gene May Be Linked to Birth Defects in Diabetic Mother
Obie Editorial Team
The Joslin Diabetes Center has identified an enzyme called AMPK that could potentially increase the risk of birth defects in children born to mothers with diabetes. This enzyme communicates to the body's cells to halt the production of a key gene known as PAX3. The presence of PAX3 is crucial during fetal development, as an insufficient amount may heighten the risk of birth defects, particularly neural tube defects. These defects are a serious concern because the neural tube is the foundation for a robust spine and brain.
In understanding the relationship between PAX3 and birth defects, past studies showed this link, but it was not clear how the PAX3 gene lost its activity. This current research sheds light on how oxidative stress, a condition where the body cannot manage an excess of free radicals, leads to the production of the AMPK enzyme. This enzyme directly instructs the nucleus in fetal cells to cease production of PAX3, which could, unfortunately, result in neural tube defects.
Now, let's look at the role of hyperglycemia, or high blood sugar, in this scenario. Hyperglycemia increases oxidative stress in the fetus by creating more free radicals than the body can handle, triggering the release of AMPK and the downstream inhibition of PAX3.
Armed with this knowledge, we note that the most powerful defense against the influencing factor of AMPK is diligent blood glucose management. For pregnant women with diabetes, maintaining steady blood glucose levels is crucial in minimizing oxidative stress on your developing child. While the research does not currently provide new medication options to block AMPK, your proactive management through diet and prescribed medications forms the foundation of prevention. Regular glucose monitoring remains an invaluable tool for supporting fetal health.
If you are navigating pregnancy with diabetes, please ensure you adhere to a diet low in carbohydrates and follow all medication regimes advised by your healthcare team. By consistently reporting your experiences to your healthcare provider, you enable them to tailor your treatment and provide the best possible outcomes for you and your baby.
Remember, you are not alone in this journey. Your proactive engagement with your health can make a significant difference.
Source: Y. Wu, M. Viana, S. Thirumangalathu, M. R. Loeken. Diabetologia. 17 October 2011.