1. Garcia KL, Yu G, Nicolini C, Michalski B, Garzon DJ, Chiu VS, Tongiorgi E, Szatmari P, Fahnestock M. {{Altered balance of proteolytic isoforms of pro-brain-derived neurotrophic factor in autism}}. {J Neuropathol Exp Neurol};2012 (Apr);71(4):289-297.
ABSTRACT: Defects in synaptic development and plasticity may lead to autism. Brain-derived neurotrophic factor (BDNF) plays a critical role in synaptogenesis and synaptic plasticity. BDNF is synthesized as a precursor, pro-BDNF, which can be processed into either a truncated form or into mature BDNF. Previous studies reported increased BDNF-immunoreactive protein in autism, but the mechanism of this increase has not been investigated. We examined BDNF mRNA by real-time reverse transcription-polymerase chain reaction and BDNF protein by Western blotting and enzyme-linked immunosorbent assay in postmortem fusiform gyrus tissue from 11 patients with autism and 14 controls. BDNF mRNA levels were not different in the autism versus control samples, but total BDNF-like immunoreactive protein, measured by enzyme-linked immunosorbent assay, was greater in autism than in controls. Western blotting revealed greater pro-BDNF and less truncated BDNF in autism compared with controls. These data demonstrate that increased levels of BDNF-immunoreactive protein in autism are not transcriptionally driven. Increased pro-BDNF and reduced truncated BDNF are consistent with defective processing of pro-BDNF to its truncated form. Distortion of the balance among the 3 BDNF isoforms, each of which may exhibit different biological activities, could lead to changes in connectivity and synaptic plasticity and, hence, behavior. Thus, imbalance in proteolytic isoforms is a possible new mechanism for altered synaptic plasticity leading to autism.
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2. Krakowiak P, Goodlin-Jones B, Hertz-Picciotto I, Croen LA, Hansen RL. {{Sleep problems in children with autism spectrum disorders, developmental delays, and typical development: a population-based study}}. {J Sleep Res};2012 (Apr);21(2):231.
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3. Sebastian CL, Blakemore SJ. {{Understanding the neural response to social rejection in adolescents with autism spectrum disorders: A commentary on Masten et al., McPartland et al. and Bolling et al}}. {Dev Cogn Neurosci};2011 (Jul);1(3):256-259.
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4. Yoo HJ, Cho IH, Park M, Yang SY, Kim SA. {{Family based association of GRIN2A and GRIN2B with Korean autism spectrum disorders}}. {Neurosci Lett};2012 (Mar 23);512(2):89-93.
N-Methyl-d-aspartate (NMDA) receptor, one of the glutamate receptors, has a role in the regulation of synaptic activity. It functions as an ion channel in the central nervous system and its inappropriate activation has been implicated in several neurological conditions. To test the association between candidate genes related with NMDA receptors and autism spectrum disorders (ASDs), we examined single nucleotide polymorphisms (SNPs) for GRIN2A and GRIN2B by using the family-based association test (FBAT) in 151 Korean trios. There was a statistically significant associations between ASDs and haplotypes in GRIN2B (bi-allelic mode additive model P-value=0.003; FDR P-value=0.012). This study supports a possible role of GRIN2B as a candidate gene for the etiology of ASDs.
