Key result
Mirta22/Emc10 loss-of-function rescues schizophrenia-related phenotypes in a 22q11.2 deletion mouse model.
Why the study?
The heterogeneity of genetic etiology and neural complexity in schizophrenia has hindered the development of improved treatments, necessitating identification of convergent neural substrates and molecular mechanisms for disease prevention or reversal.
Does a loss-of-function mutation in Mirta22/Emc10 rescue schizophrenia-related phenotypes in a mouse model of the 22q11.2 deletion?
Does a loss-of-function mutation in Mirta22/Emc10 rescue schizophrenia-related phenotypes in a mouse model of the 22q11.2 deletion?
Disabling specific protein functions via loss-of-function mutations may offer a therapeutic strategy to restore or prevent schizophrenia symptoms in genetically susceptible models.
Answers are grounded in this paper and cite their sources.
Animal model of 22q11.2 deletion may reveal convergent SCZ substrates; leaves open clinical translation pending human validation.
Significance Despite substantial progress in the field of schizophrenia (SCZ) genetics, the heterogeneity of genetic etiology and neural complexity has rendered the task of developing improved treatments inauspicious. Thus, there is need to identify convergent neural substrates and underlying molecular mechanisms that can serve the prevention or reversal of disease progression. Our extensive characterization of an animal model of the 22q11.2 deletion, one of the strongest genetic risk factors for SCZ, when combined with a loss-of-function (LoF) mutation for a microRNA-dependent upregulated target, offers a proof of principle for such approaches. Hence, identification of variants that confer protection against disease by disabling protein function via LoF effects holds great promise for devising therapeutic schemes to restore or prevent disease symptoms.
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Diamantopoulou et al. (2017) studied Schizophrenia. Loss-of-function mutation in Mirta22/Emc10 was evaluated on Schizophrenia-related phenotypes. A loss-of-function mutation in Mirta22/Emc10 rescued specific schizophrenia-related phenotypes in a mouse model of the 22q11.2 deletion.
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