What are PZMs?
PZMs have traditionally been difficult to track and study in individuals. One reason is that oftentimes genomic sequencing research looks specifically at mutations that cause a loss of function, while certain PZMs can actually cause a gain in function. After collecting their data, the research team determined that 7.5% of the genetic mutations present in their sample size were PZMs, and of this 7.5%, 83% had not been previously noticed or categorized.
Prior to the study, researchers were already aware that PZMs could be responsible for developmental disorders in the brain. Autism is one of the known disorders which can occur due to PZMs, but they can also cause epilepsy, schizophrenia, and other cognitive malformations. Based on the research team’s analysis, they discovered that individuals with autism who were also affected by PZMs typically had an altered amygdala compared with people without autism. These findings corroborate other research that has similarly suggested the development of the amygdala is a key part of autism.