• Mirna Lechpammer, Pia Wintermark, Katherine M Merry, Michele C Jackson, Lauren L Jantzie, and Frances E Jensen.
• Department of Pathology and Laboratory Medicine, University of California, Davis, Sacramento, CA, USA Department of Neurobiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA Department of Pathology, Division of Neuropathology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA mirna.lechpammer@ucdmc.ucdavis.edu.
• J. Child Neurol. 2016 Mar 1; 31 (4): 426-32.

AbstractIn this study the authors investigated whether dysregulation of the fragile X mental retardation protein and mammalian target of rapamycin signaling cascade can have a role in the pathogenesis of encephalopathy of prematurity following perinatal hypoxia-ischemia. The authors examined the brain tissue of newborns with encephalopathy and compared it to age-matched controls with normal brain development and adults. In normal controls, the fragile X mental retardation protein expression in cortical gray matter spiked 4-fold during 36-39 gestational weeks compared to the adult, with a concomitant suppression of p70S6K and S6. In encephalopathy cases, the developmental spike of fragile X mental retardation protein was not observed, and fragile X mental retardation protein levels remained significantly lower than in normal controls. Importantly, this fragile X mental retardation protein downregulation was followed by a significant overexpression of p70S6K and S6. These novel findings thus suggest that premature hypoxic-ischemic brain injury can affect the fragile X mental retardation protein/mammalian target of rapamycin pathway, as otherwise observed in inherited syndromes of cognitive disability and autism spectrum disorders. © The Author(s) 2015.

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