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He identified the first gene related to gestational diabetes



Researchers at the La Paz Institute of Medical and Molecular Genetics (INGEMM) and the Andalusian Center for Molecular Biology and Reclamation Medicine – CABIMER first identified the genetic risk factor for diabetes during pregnancy. The finding was published in the journal Diabetes.

Gestational diabetes is a disease that occurs exclusively during pregnancy and therefore disappears after delivery. This disease can, through hyperglycemia, affect normal fetal development and increase maternity risk in pregnancy and childbirth, such as macrosomia or overweight at birth.

This research opens doors for the expected and effective diagnosis of pregnancy hyperglycemia

When the keys predict whether a pregnant woman develops gestational diabetes are unknown, in Spain, a blood glucose curve is performed on all pregnant women in the second trimester to detect and treat the disease as soon as possible, reducing the consequences for the fetus and mother.

At the onset of gestational diabetes, 10% of all pregnant women affect both the environment and genetic factors, but specific genes have not yet been known to have led to pregnancy diabetes.

During this study, family groups with high frequency of gestational diabetes in two or three generations who also suffered from gestational hypothyroidism, another frequent change in pregnancy, were examined by massive sequencing.

"Our study has shown that the mutations in the PAX8 gene are involved in the risk of gestational diabetes, which we already knew was involved in human hypothyroidism but not yet in diabetes," explains José Carlos Moreno, who runs the INGEMM Molecular Laboratory of Thyroid.
Achieve the expected diagnosis

This research opens the door to a better understanding of the various genetic factors that can influence the risk of gestational diabetes, which will allow a timely and effective diagnosis of pregnancy hyperglycemia.

It can also be useful in preventing the onset of type 2 diabetes in the elderly in families with these mutations because gestational diabetes could be an early symptom, a "sentinel" sign of onset of persistent adult diabetes


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