SYNGAP1: Mind the Gap
Original research article by N. Jeyabalan and J. P. Clement (2016).
Read the article here.
The SYNGAP1 gene is responsible for regulating a major signaling protein for receptors in the brain. In their recent study, Jeyabalan and Clement used mouse models to study brain development and function in relation to SYNGAP1 mutations. They found that mutations of the SYNGAP1 gene can lead to less SYNGAP1 protein production. Protein depletion by 50% or more is enough to cause abnormal brain development and function, which can in turn lead to developmental delays and intellectual disabilities. Researchers still have more questions to answer about other proteins that may be affected by the SYNGAP1 mutation. Studies such as this can lead to development of therapeutic interventions during critical developmental stages of life.