A recent study published in the prestigious journal Molecular Psychiatry by a team of scientists from the Medical School of the University of Minnesota, the University of Texas, San Antonio, and the Institute of Biomedical Research (IBR) of the Foundation for Research and Technology (FORTH) reveals that a gene that plays a central role in regulating the circadian or biological clock may be associated with the development of autism spectrum disorder (ASD).
Neurodevelopmental disorder of the autistic spectrum (ASD) is characterized by a wide range of behavioral changes, including social skills, repetitive behaviors, speech, and non-verbal communication. According to the Centers for Disease Control and Prevention, ASD affects 1 in 44 children in the U.S.
Approximately 50-80% of children with ASD experience sleep problems, while this percentage is less than 30% for the general population. The causes of sleep problems in ASD are not fully clear, but the dysfunction of our internal clock could be a factor.
“It has long been recognized that the function of our internal clock is often disrupted in patients with autism, and these patients often present various sleep problems,” said Dr. Ruifeng Cao, Associate Professor of Neurosciences at the Medical School of the University of Minnesota. “But it is not yet known whether autism can be directly triggered by the disruption of the circadian rhythm gene.”
This study found that the disruption of a significant gene that regulates the circadian rhythm, in preclinical models, can lead to phenotypes resembling autism.
Specifically, the deletion of the Bmal1 gene can cause significant changes in social behavior, communication, and repetitive behaviors.
The models also exhibited impairments in their pineal gland or “pineal ataxia.” The research team further examined the pathological changes in the pineal gland and identified a series of cellular and molecular changes that suggest neurodevelopmental deficits.
The disruption of this gene could potentially constitute a mechanism underlying various forms of autism and possibly other neurodevelopmental disorders, and this discovery paves the way for further exciting research,” stated Dr. Christos Gkogkas, Principal Investigator of Neurobiology at the Institute of Biomedical Research (IBR) of the Foundation for Research and Technology (FORTH).
The research team plans to continue studying other circadian rhythm genes that are mutated in ASD. Specifically, they recommend the development of new therapeutic strategies based on their findings.
This study is supported by grants from the National Institutes of Health and the Winston and Maxine Wallin Neuroscience Discovery Fund.
The research team consists of professors Harry Orr, Alfonso Araque, Paulo Kofuji, and Jonathan Jonathan Gewirtz (now at the University of Arizona) from the University of Minnesota, as well as Prof. Victor Jin from the University of Texas Health Science Center at San Antonio, and Dr. Kleanthi Halkiadaki and Dr. Christos Gkogkas from the Institute of Biomedical Research (IBR) of FORTH in Greece.
Source: FemaleG
The research team consists of professors Harry Orr, Alfonso Araque, Paulo Kofuji, and Jonathan Jonathan Gewirtz (now at the University of Arizona) from the University of Minnesota, as well as Prof. Victor Jin from the University of Texas Health Science Center at San Antonio, and Dr. Kleanthi Halkiadaki and Dr. Christos Gkogkas from the Institute of Biomedical Research (IBR) of FORTH in Greece.
