Kinya Kawano

Frequency of intron 14 splicing defect of cholesteryl ester transfer protein gene in the Japanese general population — relation between the mutation and hyperalphalipoproteinemia

Cholesteryl ester transfer protein (CETP) deficiency, which has been found only in Japan, is characterized by marked hyperalphalipoproteinemia (HALP) and abnormalities of both low density and high density lipoproteins. We have reported that this deficiency is commonly associated with a G-->A mutation at the intron 14 splice donor site of the CETP gene (Yamashita et al., Biochem. Biophys. Res. Commun., 170 (1990) 1346-1351). In the current study, we determined the frequency of this mutation in Japanese subjects by using polymerase chain reaction. A single primer-template mismatch of one base pair from the CETP gene mutation permitted the introduction of a cleavage site for Nde I in mutant alleles but not in normal ones. Out of 171 patients with marked HALP whose serum HDL-cholesterol was more than 100 mg/dl, 6 (3.5%) subjects were homozygous and 48 (28.1%) were heterozygous for this mutation. Furthermore, in unrelated 512 healthy Japanese subjects, 5 (0.98%) were identified as heterozygotes. Relative allelic frequency of A at the intron 14 splice donor site was 0.0049 and the frequency of homozygous CETP deficiency was estimated to be approximately 1/42,000. These results demonstrate that this common mutation may be frequent in the Japanese population. Although HALP is very heterogenous, this mutation could be one of the major causes of marked HALP.

Body mass index variations by age and sex, and prevalence of overweight in Japanese adults

OBJECTIVE: To determine the reference value of BMI for Japanese subjects and to estimate the prevalence of overweight based on this reference value. DESIGN: Epidemiological analysis with the LMS method, which provides a way of obtaining normalized BMI distributions. SUBJECTS: 7508 Japanese subjects aged 18–69 y in 1993. MEASUREMENTS: Height, age and body weight. CALCULATION: BMI was calculated and tables for percentiles of BMI were plotted against age and sex. Furthermore, the prevalence of overweight was estimated based on 85th percentile of BMI in the men and women 20–29 y of age, who were considered the reference group. RESULTS: The geometric mean BMI and the prevalence of overweight in men was highest in the 30–39 y age group. For women the maximum BMI and prevalence of overweight occurred in the decade 50–59 y. The cut-off points for overweight in this sample were 24.7 kg/m2 for men and 22.6 kg/m2 for women. These are considerably lower than the figures of 27.8 kg/m2 and 27.3 kg/m2 estimated for Americans. CONCLUSIONS: The prevalence of obesity in Japanese populations should be estimated using ethnic specific values of BMI, rather than those drawn from Caucasians who tend to have higher BMI in each age group. The prevalence of overweight is increased as age increased in both sexes, especially in women.

Abnormal alkaline phosphatase of hepatic type in cerebrospinal fluid of a patient with intracranial metastasis from lung cancer.

High alkaline phosphatase (ALP) activity was found in the cerebrospinal fluid of a patient with intracranial metastases from adenocarcinoma of the lung. On agarose gel electrophoresis of the major ALP isoenzyme found in the cerebrospinal fluid, its mobility was different from those of the usual serum ALP isoenzymes. This abnormal mobility might be due to the linked glycan phosphatidylinositol anchor in the ALP molecule, as the mobility became the same as that of the common liver type ALP after treatment with phosphatidylinositol specific phospholipase. The immunochemical antigenicity of the cerebrospinal fluid ALP was identical with that of the common serum liver type ALP, but its sugar moiety was similar to the membranous liver-type ALP rather than the serum liver type ALP. The molecular size of the cerebrospinal fluid ALP was 140 kilodaltons, 12 less than the common serum liver type ALP, suggesting that the ALP in the patients cerebrospinal fluid was derived from the intracranial metastatic carcinoma.

Analysis of serum immunoglobulins in hereditary sensory radicular neuropathy

Serum and salivary immunoglobulins were studied in 11 members of a family including 3 patients with hereditary sensory radicular neuropathy (HSRN) in 1 of whom serum immunoglobulins were measured over a period of about 6 years. It was confirmed that serum IgA and IgG levels rose as the disease progressed. Although our results do not agree, in part, with the findings of Whitaker et al. (1974) who reported an increase in IgA alone, the present study suggested that such dysimmunoglobulinaemia deserves further study. Whether dysimmunoglobulinaemia is a primary phenomenon related to the development of HSRN or simply a secondary change remains to be further explored.

Studies on growth of Pasteurella multocida on BTB agar

It has been reported that the Pasteurella multocida does not grow on the BTB agar. Therefore, this medium has been used as selective and differential medium for Pasteurella multocida. However, we have experienced that some of the Pasteurella multocida from the patients materials grew on the BTB agar. Here, we will report on the studies of the growth of the Pasteurella multocida strain on the BTB agar. Ten strains of Pasteurella multocida from humans and animals were used as the test strains. Those were adjusted to McFarland No. 5 by the sterilized physiological saline and inoculated on the agars. We compared commercially prepared BTB agars from 3 companies and BTB agars prepared by our-self from dehydrated culture medium. Blood, Chocolate, Nutrient and MacConkey agar were also used in this study. As for the growth of the Pasteurella multocida, we checked the pH of each agar and the temperature during the cultivation. The results are as follows: 1) Pasteurella multocida was confirmed to grow on all of the BTB agar. 2) Pasteurella multocida grew most heavily at 37 degrees C and pH of 7.4 to 8.2. 3) The difference of the growth on each agar was considered to be the difference of the pH and nutritional condition of the agar.