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Bunion deformity more frequent in women, greatly reduces general, foot-specific HRQOL

August 10, 2019

When VIP binds to the VIPR2 receptor on a neuron, it triggers a key relay chemical within the cell, called cyclic AMP. The researchers found that both VIP and cyclic AMP were overactive in blood cells of patients with the VIPR2 mutations.

"It's likely that cyclic AMP signaling is disturbed in a larger fraction of patients, so it's possible that a treatment that targets VIPR2 might have benefits even for people who don't have mutations in the VIPR2 gene," said Sebat. "It looks like the volume is turned-up in the whole VIP signaling pathway."

Since the mutations lead to an overexpression of VIPR2, agents that block the receptor, which already exist, might hold potential for treatment development, he added.

In addition to genetic screening of patients for such personalized medicine, Sebat sees opportunities in the new findings for neuroimaging studies. "We must determine how over-expression of VIPR2 impacts the growth, differentiation and function of neurons - and how that influence behavior. Knowing where the VIPR2 gene is expressed in the human brain can point us to specific regions where VIP activity levels may differ between people who carry this mutation and those who don't."

Despite the challenges posed by the complexities of CNVs, Sebat is upbeat about prospects for ultimately making sense of the emerging evidence about schizophrenia genetics.

"We hypothesize that the many different genetic causes of schizophrenia may have something in common," he said. "There may be larger groups of patients who may not share the same mutation but, may share the same underlying neurobiological defect."

Source: NIH/National Institute of Mental Health