Association of mitochondrial biogenesis with variable penetrance of schizophrenia
JAMA May 28, 2021
Li J, Tran OT, Crowley TB, et al. - This study was undertaken to investigate whether mitochondrial compensation is correlated with the variable penetrance of schizophrenia in the 22q11.2 deletion syndrome (22q11DS). Researchers conducted a case-control study comparing measures of mitochondrial function and the expression of related genes in 14 induced pluripotent stem cells–derived neurons from typically developing control individuals (6 lines) and from adults with 22q11DS (8 lines). The results of this study revealed that an increase in mitochondrial biogenesis and function was correlated with the absence of schizophrenia in neurons and lymphoblastic cell lines from individuals with 22q11DS, but the deficit in the 22q+Sz group was reversible by agents that enhance mitochondrial biogenesis. It has been considered that enhancement of mitochondrial biogenesis may provide a targetable opportunity for treatment or prevention of this disorder in individuals with 22q11DS.
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