Up to 80% of children with autism spectrum disorder (ASD) have sleep problems. The researching team from Washington State University found that sleep problems in patients with autism spectrum disorders may be related to mutations in the gene SHANK3, which in turn regulates the body's 24-hour day and night cycle. Their research shows that people and mice lacking of the SHANK3 gene are difficult to fall asleep.
First, the researchers analyzed sleep data from patients with Phelan-McDermid syndrome (PMS), a hereditary disease that usually occurs concurrently with autism and is thought to be associated with the SHANK3 gene. They found that patients with PMS who lacked the SHANK3 gene started at age 5 and struggled to fall asleep and wake up many times during the night.
Researchers investigated the role of SHANK3, a high confidence ASD gene candidate, in sleep architecture and regulation. We show that mice lacking exon 21 of Shank3 have problems falling asleep even when sleepy. Using RNA-seq we show that sleep deprivation increases the differences in prefrontal cortex gene expression between mutants and wild types, downregulating circadian transcription factors Per3, Bhlhe41, Hlf, Tef, and Nr1d1. SHANK3 mutants also have trouble regulating wheel-running activity in constant darkness. Overall, the study shows that Shank3 is an important modulator of sleep and clock gene expression.
The researcher said: "If we can understand the molecular mechanism of sleep problems in Shank3 mutant mice, we expect this will also be closely related to sleep problems in autistic patients, which indicates a new intervention point."
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