Altered Cerebral Protein Synthesis in Fragile X Syndrome: Studies in Human Subjects and Knockout Mice

• Published in: Journal of cerebral blood flow and metabolism Vol. 33; no. 4; pp. 499 - 507
• Main Authors: Qin, Mei, Schmidt, Kathleen C, Zametkin, Alan J, Bishu, Shrinivas, Horowitz, Lisa M, Burlin, Thomas V, Xia, Zengyan, Huang, Tianjiang, Quezado, Zenaide M, Smith, Carolyn Beebe
• Format: Journal Article
• Language: English
• Published: London, England SAGE Publications 01.04.2013; Sage Publications Ltd; Nature Publishing Group
• Subjects: Adolescent; Adult; Animals; Brain - diagnostic imaging; Brain - metabolism; Female; Fragile X Mental Retardation Protein - genetics; Fragile X Syndrome - diagnostic imaging; Fragile X Syndrome - genetics; Fragile X Syndrome - metabolism; Humans; Hypnotics and Sedatives - administration & dosage; Male; Mice; Mice, Knockout; Original; Positron-Emission Tomography; Propofol - administration & dosage; Protein Biosynthesis; Radiography; Synapses - genetics; Synapses - metabolism; Synaptic Transmission - drug effects; Synaptic Transmission - genetics; leucine; protein synthesis; Fmr1 knockout mouse; propofol anesthesia; brain; positron emission tomography

Dysregulated protein synthesis is thought to be a core phenotype of fragile X syndrome (FXS). In a mouse model (Fmr1 knockout (KO)) of FXS, rates of cerebral protein synthesis (rCPS) are increased in selective brain regions. We hypothesized that rCPS are also increased in FXS subjects. We measured r...