Scientists have uncovered how a protein helps build and maintain vital brain connections, providing insights into the neurological problems experienced by people with a rare form of muscular dystrophy known as dystroglycanopathy.

The research conducted at Oregon Health & Science University and published in Communications Biology reveals that the protein Dystroglycan plays a critical role in forming and maintaining connections between nerve cells in the cerebellum—the part of the brain responsible for movement coordination and motor learning.

In people with dystroglycanopathy, genetic mutations in the protein affect not only muscles but also the brain. The condition is a type of congenital muscular dystrophy, a group of inherited disorders that appear at birth or in early infancy.

Cellular communication between neurons within our brain is complex and busy, much like a USPS mailroom.

To keep things running smoothly, the brain uses specialized molecules, termed alpha-2-delta (α2δ) proteins, to coordinate the sending and receival of signals between nerve cells in the brain.

Genetic variations in these types of proteins can impact important brain messaging and function, resulting in chronic pain, autism spectrum disorders, epilepsy, migraines, and other conditions.

A team of researchers at NYU Abu Dhabi has uncovered a key mechanism that helps shape how our brains are wired, and what can happen when that process is disrupted.

In a new study published in Cell Reports, the RNA-MIND Lab at NYU Abu Dhabi, led by Professor of Biology Dan Ohtan Wang, with Research Associate Belal Shohayeb, reveals how a small molecular mark on messenger RNA, called m6A methylation, regulates the production of essential proteins inside growing neurons. This process plays a critical role in the development of axons, the long extensions that neurons use to connect and communicate with each other.

The study shows that this molecular mark controls the production of a protein called adenomatous polyposis coli (APC), which helps organize the internal structure of nerve cells and is needed to locally produce β-actin, a key building block of the cytoskeleton to support axon growth. Importantly, the team also found that genetic mutations linked to autism and schizophrenia can interfere with this process, potentially affecting how the brain develops.