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Williams-Beuren syndrome is a rare disease that causes neurodevelopmental and cognitive deficits
.
Understanding why people with Williams syndrome have superior hearing skills is expected to provide a therapeutic target for the disease, in addition to helping to advance research into sound discrimination
.
Dr Stanislav Zakharenko, from the Department of Developmental Neurobiology at St.
Williams syndrome is caused by microdeletions of genes 1.
Excitatory neurons in the auditory cortex
The ability of mouse models of Williams syndrome to distinguish between sound frequencies is enhanced
.
To understand the cellular biological mechanisms behind increased auditory abilities, the researchers conducted RNA sequencing (RNA-seq) experiments
.
The researchers found that VIPR1 is regulated by the transcription factor Gtf2ird1, which is encoded by one of the 27 missing genes in patients with Williams
syndrome.
Christopher Davenport, lead author of the article, said: "We didn't know much about VIPR1 before it appeared in our data because the role of this family of receptors in the brain was not fully understood
compared to other neuroregulators or neurotransmitter receptors.
Zakharenko said: "This study suggests that reducing neuronal hyperexcitability by targeting VIPR1 may be a common mechanism
for treating Williams syndrome.
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Christopher M.
