A recent study published in iScience explores the effects of KAT6B overexpression in mice, shedding light on the behavioral implications of this gene. KAT6B gene variants in humans have been linked to two rare cognitive disorders: Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and Genitopatellar syndrome (GTPTS). These conditions often lead to developmental delays and severe intellectual disabilities, along with physical challenges like weak muscle tone (hypotonia).

The study, led by scientists at TThe Walter and Eliza Hall Institute of Medical Research, Central Clinical School – Monash University, The University of Melbourne, Florey Institute of Neuroscience and Mental Health, School of Mathematics and Statistics – University of Melbourne and Redenlab, reveals that KAT6B overexpression in mice causes aggression, anxiety, and seizures. This new research provides a better understanding of the behavioral consequences associated with these genetic disorders. The study also included the exploration of mouse communication through ultrasonic vocalizations, further broadening the scope of the findings.

This groundbreaking research highlights the importance of investigating genetic overexpression and its impacts on behavior, with potential therapeutic insights for individuals affected by these rare conditions.

Read the full study in iScience here.