A recent study published in the Proceedings of the National Academy of Sciences has uncovered new information about how the brain develops and potential abnormalities that can occur during that process. The team behind this discovery, which includes Developmental and Cell Biology Assistant Professor Pablo Lara-Gonzalez, focused on a protein called TMEM161B, the function of which was previously unknown.

The researchers discovered that patients with a condition called polymicrogyria (PMG) — a disorder that affects the way the brain is formed and causes abnormal folding of the brain’s surface and intellectual disabilities — had mutations in the TMEM161B protein. The team then looked at mice without the gene and found that they failed to develop normally. They also found that when they introduced the patient mutations into brain cells, the cells showed defects in the way they were organized.

Further research revealed that TMEM161B plays a role in regulating the structure of actin filopodia — thin, finger-like projections of the cell membrane that are involved in cell movement, growth and communication. The researchers discovered that TMEM161B modulates the structure of actin filopodia, which then affects how cells move, grow and communicate.

The study is significant because it provides insight into the molecular mechanisms underlying the development of the neocortex, specifically the process of gyrification, which is the folding of the surface of the brain. The researchers found that the protein TMEM161B plays a crucial role in this process by regulating the polarity and structural integrity of radial glial fibers in the developing brain.

Importantly, the study provides a new insight into the underlying causes of disorders related to the disruption of gyrification such as PMG and intellectual disability. Understanding the molecular mechanisms of this process has the potential to lead to better ways of identifying and treating these disorders in the future.

Learn more about the research of Professor Lara-Gonzalez here.