Decreased rates of cerebral protein synthesis in conscious young adults with fragile X syndrome demonstrated by L-[1-¹¹C]leucine PET.

ABSTRACT: Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. Fragile X mental retardation protein, a putative translation suppressor, is significantly reduced in FXS. The prevailing hypothesis is that rates of cerebral protein synthesis (rCPS) are increased by the absence of this regulatory protein. We have previously reported increased rCPS in the Fmr1 knockout mouse model of FXS. To address the hypothesis in human subjects, we measured rCPS in young men with FXS with L-[1-¹¹C]leucine PET. In previous studies we had used sedation during imaging, and we did not find increases in rCPS as had been seen in the mouse model. Since mouse measurements were conducted in awake animals, we considered the possibility that sedation may have confounded our r

SUBMITTER: Schmidt KC 

PROVIDER: S-EPMC9441731 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature