Mutations Cause Hormone Deficiencies by Altering Brain Cells

Researchers have discovered that mutations in the Sox3 gene can lead to hypopituitarism, a condition where the pituitary gland produces insufficient hormones, affecting growth and fertility. In a study on mice, they found that these mutations affect brain cells called NG2 glia, which are essential for hormone production.

In a breakthrough study published today, scientists at the Francis Crick Institute found that Sox3 mutations primarily target the median eminence (ME) in the brain, an area responsible for exchanging information between the brain and pituitary gland. The ME is affected by the absence of Sox3, leading to hypopituitarism symptoms.

However, treating mice with aspirin or altering their gut microbiome restored NG2 glia levels, reversing hypopituitarism. These findings suggest that aspirin and gut bacteria could be potential treatments for people with Sox3 mutations or other hormone-related disorders.

The researchers made this discovery by studying mice with genetic modifications to remove the Sox3 gene. The study found that these mice developed hypopituitarism when they reached a certain age, which was linked to reduced NG2 glia cells in the ME.

The team then treated mice with aspirin and observed an increase in NG2 glia levels, reversing hypopituitarism symptoms.

Interestingly, researchers discovered that changes in the gut microbiome also protected mice from hypopituitarism symptoms.

According to lead author Christophe Galichet, “It was a huge surprise to find that changes in the gut microbiome reversed hypopituitarism in the mice without Sox3. It reinforced how important it is to be aware of all variable factors, including the microbiome, when working with animals in research and how nurture can influence nature.”

The study highlights the significance of NG2 glia cells for ME function during post-natal development and their sensitivity to external signals.

Future studies will aim to unravel the exact mechanisms behind aspirin’s effects on NG2 glia and explore these findings in humans to determine if they could provide potential treatments for hypopituitarism.
Source: https://neurosciencenews.com/microbiome-sox3-genetics-hormones-27699/