title: Neuregulin 1-induced AKT and ERK phosphorylation in patients with fragile X syndrome (FXS) and intellectual disability associated with obstetric complications.
abstract: Animal models of fragile X syndrome (FXS) suggest the impairment of the intracellular AKT messenger system, which is activated by neuregulin 1 (NRG1), a key regulator of neurodevelopment. We investigated NRG1-induced activation of the AKT and extracellular signal-regulated kinase (ERK) systems by the measurement of the phosphorylated AKT/ERK to total AKT/ERK ratio in peripheral B lymphoblasts of patients with FXS, IQ-matched controls with intellectual disability (obstetric complications, preterm birth, perinatal hypoxia, and low birth weight), and typically developed healthy participants. Results revealed that patients with FXS displayed decreased AKT but normal ERK activation after the administration of NRG1. IQ-matched controls with intellectual disability displayed intact AKT/ERK activation. In conclusion, FXS, but not intellectual disability associated with obstetric complications, is associated with decreased NRG1-induced AKT phosphorylation.
authors.affiliation: Nyírő Gyula Hospital-National Institute of Psychiatry and Addictions, Budapest, Hungary.
authors.forename: Tamás
authors.initials: T
authors.lastname: Kovács
authors.forename: Boglárka
authors.initials: B
authors.lastname: Bánsági
authors.forename: Oguz
authors.initials: O
authors.lastname: Kelemen
authors.forename: Szabolcs
authors.initials: S
authors.lastname: Kéri
mesh_terms: D000328:Adult; D001402:B-Lymphocytes / Q000378:metabolism; D016022:Case-Control Studies; D005260:Female; D005600:Fragile X Syndrome / Q000378:metabolism*; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology / Q000378:metabolism*; D020935:MAP Kinase Signaling System; D008297:Male; D020890:Neuregulin-1 / Q000235:genetics / Q000378:metabolism*; D007744:Obstetric Labor Complications / Q000378:metabolism; D010766:Phosphorylation; D011247:Pregnancy; D051057:Proto-Oncogene Proteins c-akt / Q000235:genetics / Q000378:metabolism*
chemical_list: D020890:Neuregulin-1; D051057:Proto-Oncogene Proteins c-akt