Determination of gaseous organic compounds in Hyogo Prefecture, Japan.

The aim of this study was to analyze gaseous organic chemicals (GOCs) of high traffic (Nishinomiya City: 979,987 vehicles/day) and low traffic areas (Miki City: 29,338 vehicles/day) by gas chromatography-mass spectrometry (GC-MS) and to evaluate general environment exposure by PAHs in GOCs. After air sampling using an OMNIPORE membrane filter (< 0.45 microm) and Porapak-QS, sorbents were extracted with solvent (dichloromethane: acetone (4:1 v/v), and analysis was carried out by GC-MS.

ARMET is a soluble ER protein induced by the unfolded protein response via ERSE-II element.

Arginine rich, mutated in early stage of tumors (ARMET) was first identified as a human gene highly mutated in a variety of cancers. However, little is known about the characteristics of the ARMET protein and its expression. We identified ARMET as a gene upregulated by endoplasmic reticulum (ER) stress.

Trial to evaluate effects of ambient particulate matter on health: A preliminary study using two-dimensional gel electrophoresis.

Objectives: Particulate air pollution is a serious problem all over the world, and the development of a method to evaluate the health effects of ambient particles is necessary. In this study, cells cultured in vitro were exposed to particles sampled at the side of a main road, and their protein expression levels were examined.

Methods: Ambient particles were collected at the side of a main road using a high-volume air sampler.

A PTPN11 gene mutation (Y63C) causing Noonan syndrome is not associated with short stature in general population.

Human growth is a highly complicated process, but it is obviously influenced by a genetic factor. Recent genome-wide linkage analyses suggested some genetic regions underlying stature variations. However, any specific genes underlying stature variations have not been identified.

Proinsulin lacking the A7-B7 disulfide bond, Ins2Akita, tends to aggregate due to the exposed hydrophobic surface.

A single mutation (C96Y) in the Ins2 gene, which disrupts the A7-B7 disulfide bond, causes the diabetic phenotype in Akita mice. We biochemically analyzed the conformation of wild-type and Akita mutant recombinant proinsulins. Gel filtration chromatography and dynamic light scattering revealed that the apparent size of the mutant proinsulin molecules was significantly larger than that of wild-type proinsulin, even in the absence of intermolecular disulfide bonds.

Endoplasmic reticulum stress induces Wfs1 gene expression in pancreatic beta-cells via transcriptional activation.

Objective: The WFS1 gene encodes an endoplasmic reticulum (ER) membrane-embedded protein. Homozygous WFS1 gene mutations cause Wolfram syndrome, characterized by insulin-deficient diabetes mellitus and optic atropy. Pancreatic beta-cells are selectively lost from the patient's islets.

Evaluation of a mass screening program for lysinuric protein intolerance in the northern part of Japan.

Lysinuric protein intolerance (LPI:MIM 222700) is an autosomal recessive disease characterized by defective transport of the dibasic amino acids. We recently reported a local cluster of LPI in the northern part of Japan (Koizumi et al., 2000).

Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.

Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic renal disorder (incidence, 1:1,000). The mutation of PKD1 is thought to account for 85% of ADPKD. Although a considerable number of studies on PKD1 mutation have been published recently, most of them concern Caucasian ADPKD patients.

Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan.

Hereditary hemorrhagic telangiectasia (HHT or Rendu-Osler-Weber syndrome) is an autosomal dominant disorder characterized by aberrant vascular development. We report here a genetic epidemiologic study in a county, A, in the Akita prefecture (population 1.2 million) located in northern Japan.