Research led by the Institute for Basic Science (IBS) suggests that lithium, a drug commonly used for bipolar disorder and depression, may be a viable treatment option for autism spectrum disorder (ASD).
A groundbreaking discovery has highlighted lithium, a drug long used to treat bipolar disorder and depression, as a potential therapy for autism spectrum disorder (ASD). This research, conducted by a team at the Center for Synaptic Brain Dysfunctions within the Institute for Basic Science (IBS) led by Director KIM Eunjoon, reveals that lithium can restore brain function and alleviate behavioral symptoms in animal models of ASD caused by mutations in the Dyrk1a gene.
ASD is a neurodevelopmental disorder affecting 2.8% of the global population, characterized by social deficits, repetitive behaviors, intellectual challenges, and anxiety. Because ASD imposes a heavy burden not only on the patients themselves but on their families and society as a whole, new therapeutic methods must be developed to treat the core symptoms of ASD. Despite its prevalence, there are no definitive treatments or preventive measures. Among the many genetic risk factors for ASD, Dyrk1a mutations stand out as significant, leading to conditions such as Dyrk1a syndrome. Patients carrying Dyrk1a loss-of-function mutation have presented with ASD, microcephaly, language problems, social disability, and anxiety. The mouse model carrying Dyrk1a I48K truncation mutation (a human patient mutation), also mimics these phenotypes closely. One of the underlying mechanisms of ASD symptoms by Dyrk1a mutation discovered within this study is impaired phosphorylation levels of mTOR (mammalian target of rapamycin). To find the specific substrate of Dyrk1a, the researchers needed to generate mice lacking the entirety of Dyrk1a expression (homozygote), a condition that has been known to be embryonically lethal. However, by switching the mouse genetic background, it was possible to generate live animals with this mutation. Even so, the survival rate was abysmal, with less than 5% of the mutant pups surviving
Autism Spectrum Disorder Lithium Treatment Dyrk1a Gene Neurodevelopmental Disorder
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