What is PPFIA3 and How Does It Affect the Brain?
PPFIA3 is a gene that makes a protein that helps build and organize important parts of the brain called synapses. Synapses are the connections between brain cells that allow them to send messages to each other.
These messages are passed along using chemicals called neurotransmitters. In most people, the messages passed along by neurotransmitters are essential for things like learning, walking, and talking.
Individuals with changes in their PPFIA3 gene can experience differences in how the brain and body functions. This is because variants in PPFIA3 can cause the synapses to not form properly, preventing the neurotransmitters from delivering proper messages between brain cells.
This can lead to conditions like seizures, trouble speaking (dysarthria), changes in their social interactions (autism), and delays in development, where a person may take longer to learn or reach milestones like walking or talking.
In short, changes in the PPFIA3 gene can affect how well brain cells communicate, leading to various neurological issues.