Association analysis of the DISC1 gene with schizophrenia in the Japanese population and DISC1 immunoreactivity in the postmortem brain

The Disrupted-in-Schizophrenia 1 (DISC1) gene plays a role in the regulation of neural development. Previous evidence from genetic association and biological studies implicates the DISC1 gene as having a role in the pathophysiology of schizophrenia. In the present study, we explored the association between DISC1 missense mutation rs821616 (Ser704Cys) single nucleotide polymorphism (SNP) and four other SNPs (rs1772702, rs1754603, rs821621, rs821624) in the related haplotype block and schizophrenia in the Japanese population. We could not find a significant association of selected SNPs with schizophrenia after correction for multiple testing. We performed a meta-analysis of the Ser704Cys variant in schizophrenia using data from the present study and five previous Japanese population studies, and found no association with schizophrenia. We also examined DISC1 immunoreactivity in postmortem prefrontal cortex specimens of schizophrenia patients compared to control samples. The immunoreactivity revealed a significant decrease of DISC1 protein expression in the schizophrenia samples after ruling out potential confounding factors. However, the Ser704Cys variant did not show effects on DISC1 immunoreactivity. These results provide evidence that this functional genetic variation of DISC1 do not underlie the pathophysiology of schizophrenia in the Japanese population.     

Association study of BDNF with completed suicide in the Japanese population

We explored the association between the brain-derived neurotrophic factor gene with suicide using 307 Japanese completed suicides, 380 healthy controls, and data from previously published samples. The meta-analyses of the valine with methionine in codon 66 (Val66Met) single nucleotide polymorphism (SNP) showed that the Met-allele tended to be associated with attempted suicide in Asian populations, but not with the completed suicide.     

Variation in the attachment of <Emphasis Type="Italic">Streptococcus pneumoniae</Emphasis> to human pharyngeal epithelial cells after treatment with S-carboxymethylcysteine

S-carboxymethylcysteine (S-CMC) is a mucolytic agent that can prevent respiratory infection by decreasing the attachment of respiratory pathogens to human pharyngeal epithelial cells (HPECs). Streptococcus pneumoniae is a major cause of respiratory infections. A previous study revealed that treatment of S. pneumoniae with S-CMC caused a decrease in the attachment of this bacterium to HPECs. In the present study we found that the effect of S-CMC varied according to hosts and strains. S-CMC treatment altered the surface structure of S. pneumoniae, resulting in a decrease of attachment, without affecting the virulence of the bacteria.     

Noninvasive recording of His-Purkinje activity in patients with complete atrioventricular block. Clinical application of an "automated discrimination circuit".

In seven patients with complete atrioventricular (AV) block, His bundle electrograms (HBEs), standard ECG recordings, bipolar esophageal ECGs and highly amplified, filtered, bipolar chest lead ECGs were simultaneously recorded. The filtered chest lead ECG was averaged to determine His-Purkinje activity (HPA). A simplified device, the "automated discrimination circuit," was used to selectively eliminate the superimposed atrial and ventricular potentials that are characteristic of complete AV block and unsuitable for signal averaging. The processed chest lead ECG was amenable to conventional techniques of signal averaging. In four patients with block proximal to the AV node diagnosed by HBE, there was no activity after the P wave in the surface-averaged ECGs. HPA was consistently recorded before the QRS in the surface-averaged ECG. The measurements of the HV and HPA-V intervals were very close, with a difference of less than 2 msec. Three patients with block distal to the His bundle by HBE showed a loss of electrical potential before the QRS in the surface-averaged ECG, but had a consistent HPA after the P waves. The P-HPA intervals coincided well with PH intervals, with a maximal difference of 5 msec.