A research on the role of a protein in brain development has revealed new genetic causes of behavioral disorders. During the study, researchers at Baylor College of Medicine and Texas Children's Hospital got a guinea pig with clinical symptoms of neurological disorders. The mouse has revealed the genetic causes of the neurological condition of five patients without a diagnosis until yesterday.
The team was studying the connection between an increased function of ATXN1-CIC complex and the development of neurological problems. To get an idea of the role of the protein complex in a normal brain, they decided to analyze even the opposite situation. They then created an animal model lacks the genes involved in the formation of ATXN1-CIC. The mice thus obtained showed signs of hyperactivity, learning disabilities and abnormal social behavior.
The researchers removed the protein from various regions of the brain of mice, so as to analyze the different effects of the transaction. Changes limited in the cortex region are enough to cause a strong hyperactivity in mice. Involvement of the hypothalamus and amygdala, however, resulted in deficits in social interactions. These behaviors are very similar to those seen in people with autism spectrum disorders.
The observation of behavioral abnormalities in mice led to seek a parallel with humans. The researchers used an online database designed for research on rare diseases, called GeneMatcher. They tried subjects with abnormalities in genes related to the formation of ATXN1-CIC and found five individuals. People with the genetic abnormality suffering from behavioral disorders, intellectual disabilities, autism spectrum disorders. They were all free from diagnosis.
The discovery revealed a new possible genetic cause for some major neurological disorders. He also gave an answer to five patients waiting for a diagnosis. This will allow to study new prenatal diagnostic techniques and not for behavioral disorders, as well as to develop new treatments.