The insulin-like growth factor (IGF) pathway is thought to play an important role in brain development. Altered levels of IGFs and their signaling regulators have been shown in autism spectrum disorder (ASD) patients. In this study, we investigated whether coding region single-nucleotide polymorphisms (cSNPs) of the insulin receptor substrates (IRS1 and IRS2), key mediators of the IGF pathway, were associated with ASD in Korean males. Two cSNPs (rs1801123 of IRS1, and rs4773092 of IRS2) were genotyped using direct sequencing in 180 male ASD patients and 147 male control subjects. A significant association between rs1801123 of IRS1 and ASD was shown in additive (p = 0.022, odds ratio (OR) = 0.66, 95% confidence interval (CI) = 0.46–0.95) and dominant models (p = 0.013, OR = 0.57, 95% CI = 0.37–0.89). Allele frequency analysis also showed an association between rs1801123 and ASD (p = 0.022, OR = 0.66, 95% CI = 0.46–0.94). These results suggest that IRS1 may contribute to the susceptibility of ASD in Korean males.
ObjectiveMitochondrial dysfunction is a prominent and early feature of Alzheimer's disease (AD). The morphologic changes observed in the AD brain could be caused by a failure of mitochondrial fusion mechanisms. The aim of this study was to investigate whether genetic polymorphisms of two genes involved in mitochondrial fusion mechanisms, optic atrophy 1 (OPA1) and mitofusin 2 (MFN2), were associated with AD in the Korean population by analyzing genotypes and allele frequencies.MethodsOne coding single nucleotide polymorphism (SNP) in the MFN2, rs1042837, and two coding SNPs in the OPA1, rs7624750 and rs9851685, were compared between 165 patients with AD (83 men and 82 women, mean age 72.3±4.41) and 186 healthy control subjects (82 men and 104 women, mean age 76.5±5.98).ResultsAmong these three SNPs, rs1042837 showed statistically significant differences in allele frequency, and genotype frequency in the co-dominant 1 model and in the dominant model.ConclusionThese results suggest that the rs1042837 polymorphism in MFN2 may be involved in the pathogenesis of AD.
A xenon excimer lamp which irradiates vacuum ultraviolet (VUV) light at 172 nm in wavelength was applied to the photochemical surface conversion of n-octadecyltrimethoxysilane self-assembled monolayer (ODS-SAM) in the presence of atmospheric oxygen and subsequent multilayer fabrication. The terminal functional groups of ODS-SAM, -CH 3 groups, were converted into polar functional groups, like -COOH, by the reaction with atomic oxygen species generated photochemically through VUV excitation of atmospheric oxygen molecules. The structure of the resulting organosilane multilayer with different numbers of superimposed monolayers (from 1 to 11), prepared on a smooth and hydrophilic silicon substrate by the layer-by-layer (LbL) approach, was examined in terms of molecular organization as well as the intra-or interlayer binding modes in such novel films. Ellipsometry and grazing angle X-ray reflectivity measurements revealed that multilayer films of up to 11 discrete monolayers were successfully obtained, indicating that the self-assembly is a viable technique for the construction of relatively thick (16 nm and above) multilayer films.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.