Identified the first gene related to gestational diabetes


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

Gestational diabetes is one that occurs exclusively during the period of pregnancy and therefore disappears after childbirth. This disease, through hyperglycaemia, can affect the normal development of the fetus and increase obstetric risks in pregnancy and childbirth, such as macrossomia or excessive birth weight.

This research opens the door to an early and effective diagnosis of hyperglycemia in pregnancy

When the keys to predict whether a pregnant woman will develop 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 quickly as possible, thus reducing the consequences for the fetus and the mother.

At the onset of gestational diabetes, it affects 10% of all pregnant women, both environmental and genetic factors influence, but so far specific genes were unknown, whose change led to diabetes in pregnancy.

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

"Our study revealed that mutations in the PAX8 gene are implicated in the risk of gestational diabetes," said José Carlos Moreno, director of the INGEMM's Molecular Thyroid Laboratory, which was already known to be involved in human hypothyroidism. .
Get an early diagnosis

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

It could also be useful in preventing the onset of type 2 diabetes at more advanced ages in families with these mutations, since gestational diabetes may be an early manifestation, a "sentinel" sign of the onset of permanent diabetes at middle age


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