title: Phenylketonuria-related synaptic changes in a BTBR-Pah(enu2) mouse model.
abstract: Phenylketonuria is the most common, inherited aminoacidopathy associated with brain injury. To date, no study has focused on the neuropathology of the genetic mouse model of phenylketonuria, BTBR-Pah(enu2). We examined dendritic spines and synapses in the CA1 and prefrontal cortex among the wild-type, heterozygous, and BTBR-Pah(enu2) mice. A reduced density of dendritic spines, a shortened length of the presynaptic active zone, a widened synaptic cleft, and decreased thickness of postsynaptic density were revealed in BTBR-Pah(enu2) mice. Meanwhile, the phosphorylation at Thr286 of Ca(2+)/calmodulin-dependent protein kinase IIα was alerted in BTBR-Pah(enu2) mice. These findings revealed that phenylketonuria-related brain impairment is accompanied with abnormalities of dendritic spines and synapses. The dysfunction of Ca(2+)/calmodulin-dependent protein kinase IIα may result in an impaired synaptic function.
authors: Department of Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai, China.
authors: Lili
authors: L
authors: Liang
authors: Xuefan
authors: X
authors: Gu
authors: Lihua
authors: L
authors: Lu
authors: Duan
authors: D
authors: Li
authors: Xinshun
authors: X
authors: Zhang
mesh_terms: D000818:Animals; D015153:Blotting, Western; D054732:Calcium-Calmodulin-Dependent Protein Kinase Type 2 / Q000378:metabolism*; D049229:Dendritic Spines / Q000378:metabolism / Q000648:ultrastructure*; D004195:Disease Models, Animal; D005625:Frontal Lobe / Q000378:metabolism / Q000503:physiopathology / Q000648:ultrastructure; D051379:Mice; D008815:Mice, Inbred Strains; D046529:Microscopy, Electron, Transmission; D010661:Phenylketonurias / Q000378:metabolism* / Q000473:pathology* / Q000503:physiopathology; D013569:Synapses / Q000378:metabolism* / Q000648:ultrastructure*
chemical_list: D054732:Calcium-Calmodulin-Dependent Protein Kinase Type 2