Clock gene mutation found to contribute to the development of autism
Date:
March 24, 2022
Source:
University of Minnesota Medical School
Summary:
Researchers found that the disruption of a circadian clock gene
may be involved in the development of autism spectrum disorder.
FULL STORY ========================================================================== Published in Molecular Psychiatry,a team of scientists from the University
of Minnesota Medical School, University of Texas Health San Antonio, and
the Biomedical Research Institute (BRI) of the Foundation for Research
and Technology Hellas (FORTH) in Greece found that the disruption of
a circadian clock gene may be involved in the development of autism
spectrum disorder.
========================================================================== Autism spectrum disorder, or ASD, refers to a neurodevelopmental
disorder characterized by a wide range of behavioral conditions including challenges with social skills, repetitive behaviors, speech and nonverbal communication.
According to the Centers for Disease Control and Prevention, ASD affects
one in 44 children in the U.S.
About 50-80% of children with ASD have sleep problems, compared to less
than 30% in the general population. The causes of sleep problems in
ASD are not entirely clear, but a malfunctioning body clock could be
the culprit.
"It has long been recognized that the function of the body clock is
frequently disrupted in autism patients and these patients often exhibit various sleep problems," said Ruifeng Cao, MD, PhD, an assistant professor
of neuroscience at the U of M Medical School, Duluth Campus and co-author
of the study. "But, it is not known whether clock gene disruption can
directly cause autism." The study found that the disruption of an
essential clock gene in preclinical models can lead to autistic-like phenotypes. Specifically, the global or cerebellar deletion of the Bmal1
gene can cause severe impairments in sociability, social communication
and excessive repetitive behaviors.
The models also illustrated damages to their cerebellum -- or cerebellar ataxia. The research team further studied the pathological changes in
the cerebellum and found a number of cellular and molecular changes that indicate neurodevelopmental deficits.
"Clock gene disruption could be a mechanism underlying several forms of
autism and potentially other neurodevelopmental conditions, and this
finding paves the way for further exciting research," said Christos
Gkogkas, PhD, a lab principal investigator in neurobiology at BRI
of FORTH.
The research team plans to continue to study other clock genes that are
found mutated in ASD. More importantly, they recommend development of
novel therapeutic strategies based on their findings.
The study is supported by grants from the National Institute of Health
and the Winston and Maxine Wallin Neuroscience Discovery Fund.
The research team consists of Drs. Harry Orr, Alfonso Araque, Paulo
Kofuji, and Jonathan Gewirtz (now at Arizona State University) from
the U of M Medical School; Dr. Victor Jin from UT Health San Antonio;
and Dr. Christos Gkogkas from BRI-FORTH in Greece.
========================================================================== Story Source: Materials provided by
University_of_Minnesota_Medical_School. Original written by Kat
Dodge. Note: Content may be edited for style and length.
========================================================================== Journal Reference:
1. Dong Liu, Carmen Nanclares, Konstanze Simbriger, Kun Fang,
Ethan Lorsung,
Nam Le, Ine^s Silva Amorim, Kleanthi Chalkiadaki, Salil Saurav
Pathak, Jin Li, Jonathan C. Gewirtz, Victor X. Jin, Paulo Kofuji,
Alfonso Araque, Harry T. Orr, Christos G. Gkogkas, Ruifeng
Cao. Autistic-like behavior and cerebellar dysfunction in Bmal1
mutant mice ameliorated by mTORC1 inhibition. Molecular Psychiatry,
2022; DOI: 10.1038/s41380-022-01499-6 ==========================================================================
Link to news story:
https://www.sciencedaily.com/releases/2022/03/220324104544.htm
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