Search PubMed⌕ Search

Biomedical subjects

N Kondo

Publications and source records attributed to N Kondo.

At least 289 records · Page 16Linked to original sources
PubMed1996

Prenatal diagnosis of adrenoleukodystrophy by means of mutation analysis.

Prenatal diagnosis of adrenoleukodystrophy (ALD) was performed by means of genetic and biochemical analysis using chorionic villi and amniocytes. The mother was a carrier of an exonic point mutation in the ALD protein gene (2154 C to T) which resulted in the premature formation of a termination codon (Q590STOP) and deletes the Pst I site. Two patients in this family were hemizygotes for this mutation. Pst I digestion of cDNA from chorionic villi revealed that the fetus was a heterozygote for this mutation, and sex determination using the polymerase chain reaction (PCR) indicated female. Lignocerate oxidation in cultured amniocytes was slightly decreased. These findings suggest that the fetus is a female carrier of ALD, and the resultant baby was female.

Adrenoleukodystrophy↗
PubMed1996

Prenatal diagnosis of succinyl-coenzyme A:3-ketoacid coenzyme A transferase deficiency.

Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare disorder of ketone body catabolism. In the present study, we prenatally diagnosed SCOT deficiency in a fetus in a family of which the proband was the first patient with SCOT deficiency identified in Japan, by analysis of enzyme activity levels in samples of chorionic villi and cultured amniocytes. In the fetus of the family, SCOT activity was not detected in either chorionic villi or cultured amniocytes. Since the levels of SCOT activity in control chorionic villi were close to our minimal detectable level and were much lower than those in control cultured amniocytes, enzyme assay in cultured amniocytes was more feasible than that in chorionic villi for prenatal diagnosis of SCOT deficiency. No elevated accumulation of 3-hydroxybutyrate or acetoacetate was detected in the amniotic fluid of the fetus. To our knowledge, this report is the first of prenatal diagnosis of SCOT deficiency.

3-Hydroxybutyric Acid↗
PubMed1996

Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations.

alpha-L-Iduronidase (IDUA) deficiency (mucopolysaccharidosis type I; MPS-I) is an inborn error of lysosomal degradation of glycosaminoglycans that results in storage of undegraded glycosaminoglycans in lysosomes. Previous studies in Caucasian populations showed that (1) homozygosity or compound heterozygosity for the W402X and Q70X mutations are the common causes of MPS-I with a severe form (Hurler syndrome), and (2) the presence of R89Q may lead to a milder phenotype. We studied mutations in the IDUA gene from 19 MPS-I patients, including two pairs of siblings, with various clinical phenotypes (Hurler, 6 cases; Hurler/Scheie, 7 cases; Scheie, 6 cases). We report the presence of two common mutations that account for 42% of the 38 alleles in these patients. One is a novel 5-bp insertion between the thymidine at nt 704 and a cytosine at nt 705 (704ins5), which is seen only in the Japanese population. The other is a missense mutation, R89Q, which is also seen in Caucasians, although uncommonly. In the 19 Japanese MPS-I patients, the 704ins5 mutation accounted for 7 of 38 alleles (18%), while the R89Q accounted for 9 of 38 (24%). No Japanese patient was found to carry the W402X or Q70X alleles, the two most common MPS-I mutations in Caucasians. Homozygosity for the 704ins5 mutation is associated with a severe phenotype, and for the R89Q mutation with a mild phenotype. Compound heterozygosity for these two mutations produced an intermediate phenotype. Haplotype analysis using polymorphisms linked to the IDUA locus demonstrated that each mutation occurs on a different specific haplotype, suggesting that individuals with each of these common mutations derive from common founders. These data continue to document the molecular heterogeneity and racial differences in mutations in MPS-I.

Adult↗
PubMed1996

Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.

The N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene, which is responsible for autosomal recessive mucopolysaccharidosis IVA (MPSIVA), has been assigned to the long arm of chromosome 16, subregion 24.3, an area where the adenine phosophoribosyltransferase (APRT) gene and renal dipeptidase (DPEP I) gene are also localized. Molecular genetic studies on a severely affected patient with MPSIVA (Morquio disease), without karyotypic abnormality, revealed a partial submicroscopic deletion of 16q24.3 and a single point mutation on the other allele, with no functional GALNS activity. The patient, his mother, and siblings were hemizygous for GALNS and APRT loci, evidenced by informative RFLP and gene dosage analyses combined with a fluorescence in situ hybridization, utilizing a partial genomic clone of GALNS, but heterozygosity was retained at the DPEP I locus and proximal D16S7. Haplotyping of the family members revealed recombinational events between DPEP I locus and three other polymorphic loci on the paternal chromosome, localizing GALNS gene on the proximal side to DPEP I gene. As estimated from the genetic distance between two flanking markers of proximal D16S7 and distal DPEP I locus, size of the deletion was less than 3Mb. Mother of the boy and two older siblings were asymptomatic, despite this interstitial deletion of the Giemsa-light G band. The remaining paternal allele had no gene rearrangement but GALNS activity was not encoded as Arginine at 386 was replaced with Cysteine (R386C), suggesting this alteration accounts for the severe phenotype. Allelic loss of APRT is frequently observed in cancer tissues, thereby suggesting that the tumor suppressor gene locates near the APRT locus. No family member has evidence of any malignant disease. This study is apparently the first documentation of interstitial deletion of 16q24.3, involving GALNS and APRT genes.

Adenine Phosphoribosyltransferase↗
PubMed1996

Differences in regional sweating responses during exercise between athletes trained on land and in water.

We investigated whether there are any differences in regional sweating responses during exercise between athletes trained on land and in water. We measured the local sweating rates on the left forearm (mswf) and the left scapula (msws), body temperatures (mean skin temperature, and rectal temperature Tre) in eight athletes trained on land (five soccer players, one distance runner and two baseball players, L group) and seven athletes trained in water (seven swimmers, W group) during cycle ergometer exercise at 50% maximal oxygen uptake for 40 min. The heart rate and oxygen uptake in the two groups during exercise showed nearly the same pattern of change. The Tre at the end of the exercise were 38.13 (SEM 0.19) degrees C in the L group and 38.26 (SEM 0.34) degrees C in the W group. Although the mswf in the two groups were similar, msws were significantly higher in L than in W at 30, 35 and 40 min of exercise. The msws at any given mean body temperature tended to be greater in L than in W. These results showed that a difference in regional sweating rate during exercise between the athletes trained on land and in water was present on the scapula.

Adult↗
PubMed1996

Mucopolysaccharidosis IVA: a comparative study of polymorphic DNA haplotypes in the Caucasian and Japanese populations.

Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulphate sulphatase (GALNS). The genetic heterogeneity at the GALNS locus was studied in 62 mutant alleles and 376 normal alleles in the Caucasian population and also in 40 mutant and 100 normal alleles in the Japanese population. For this study, six different restriction fragment length polymorphisms (RFLPs) at the GALNS locus were analysed to search for the frequency of each RFLP produced by StyI, SphI, RsaI, HaeIII, StuI and HapII restriction endonucleases. We detected a total of 27 haplotypes in the Caucasian and Japanese population. Of these 27 haplotypes, 18 haplotypes were present in the Caucasian population and the most common of these was haplotype 1 (ABHcde) in both mutant and normal alleles. In contrast, in the Japanese population we found 20 of the 27 haplotypes and the most common in mutant and normal alleles was haplotype 2 (abhcDE). Within these two populations a parent in the MPS IVA family has an average probability of greater than 77% (in the Caucasian population 77.27% and in the Japanese population 78.26%) of being heterozygous, and hence informative for linkage, at one or more GALNS RFLP sites. Our results delineate the molecular heterogeneity of MPS IVA haplotypes, as well as their significant interpopulation variation, and make prenatal diagnosis and carrier detection possible in the majority of families with one affected child.

Acetylgalactosamine↗
PubMed1996

Incidence of peroxisomal disorders in Japan.

Japanese patients with peroxisomal disorders in the pediatric field were screened. Very long chain fatty acid analysis in the serum sphingomyelin was introduced since 1987 and was useful for the first screening of peroxisomal disorders. Seventy-five patients were diagnosed since 1980: 15 patients with Zellweger syndrome, 2 with neonatal adrenoleukodystrophy (ALD), 1 with rhizomelic chondrodysplasia punctata, 1 with Zellweger-like syndrome. 2 with acyl-CoA oxidase deficiency, 2 with bifunctional enzyme deficiency and 52 with X-linked ALD. The incidence of peroxisome-deficient disorders was estimated to be approximately 1 in 800,000 births which is far less than that in the USA. However, the incidence in Okinawa Islands was 1 in 30,000. Japanese Zellweger patients belonged to 5 complementation groups (A, B, C, E, F) and the patients in Okinawa Islands belonged to groups A and C. The results of this screening were useful for genetic counseling, prenatal diagnosis, carrier detection and early medical care of patients with peroxisomal disorders.

Adolescent↗
PubMed1996

Interstitial deletion of the short arm of chromosome 10: report of a case and review of the literature.

The fifth patient with an interstitial deletion of the short arm of chromosome 10 is described. She showed most of the features observed in other known patients at age 20, including psychomotor retardation, distinct facial dysmorphism, abnormally shaped skull and cardiac malformation, while she did not show any growth retardation. The elevation of serum IgG level was observed from age 15, but she did not show DiGeorge syndrome. These differences would be explained by the differences in the amount of deleted segments using high resolution chromosome banding and molecular methods.

Adult↗
PubMed1996

Duplications and deletions of the human IGHC locus: evolutionary implications.

A limited number of deletions and duplications within the human immunoglobulin heavy chain constant locus (IGHC) has previously been reported. We studied the IGHC locus in about 500 individuals representing three major races of human, Negroid (Gambian), Mongoloid (Japanese and Chinese), and Caucasoid (Iranian and Swedish). The haplotype frequency of duplications is highest in the Mongoloid population (22%), followed by the Caucasian (10%) and Negroid (5%) populations. The corresponding frequency of deletions are 2, 1.5, and 3.5%, respectively. New types of multiple duplications were found in this study on different genetic (H haplotype and racial) backgrounds. The most common duplication, found in all populations studied, encompasses the IGHA1-IGHE genes. The only deletion common to all racial groups is an isolated deletion of the IGHG4 gene. Our data are consistent with the hypothesis that the Caucasoid-Mongoloid group diverged from the hominoid ancestor after development of the Negroid populations, with subsequent evolution within the respective groups thereafter.

Electrophoresis, Gel, Pulsed-Field↗
PubMed1996

Neuropathological evaluation and apolipoprotein E gene polymorphism analysis in diffuse Lewy body disease.

We performed a quantitative neuropathological investigation of senile plaques and neurofibrillary tangles in the brains of 14 Japanese patients with diffuse Lewy body disease (DLBD), and examined apolipoprotein E (APOE) gene polymorphism in these patients. Most DLBD brains had as many senile plaques as those with Alzheimer-type dementia (ATD), but fewer neurofibrillary tangles. The APOE epsilon 4 allele frequency in DLBD was 39.3%, similar to that previously reported in pathologically diagnosed ATD. DLBD and ATD are clinically and pathologically distinct, but may have common mechanisms with regard to the formation of amyloid deposition based on these findings. Future investigation of the pure form of DLBD may clarify the association between Lewy body dementia and APOE.

Aged↗
PubMed1996

Kinetics of oxygen uptake and cardiac output at onset of arm exercise.

Pulmonary oxygen uptake (V O2) kinetics at onset of exercise is reported to be slower for arm than for leg exercise. This could be attributed to reduced cardiac output (Q) or reduced arteriovenous O2 content difference or both. To test this, V O2 mean tissue oxygen consumption (V O2T) and Q kinetics in arm cranking were compared with corresponding values found in leg cycling. The increase in V O2 during phase 1 (abrupt increase after onset of exercise) was less in arm than in leg exercise, suggesting that immediate Q adjustments to arm exercise were less pronounced. Mean response times (MRT, the relative rates at which a steady state was attained) for V O2, V O2T, and Q were prolonged during arm exercise. The MRT of VO 2 in arm exercise at a given blood lactate increase was higher than in leg exercise. The delayed V O2 kinetics in arm exercise might be due to delayed Q kinetics and higher anaerobic glycolysis occurring early during arm exercise.

Adult↗
PubMed1996

Fruit harvesting robots in Japan.

We have developed harvesting robots for tomato, petty-tomato, cucumber and grape in Japan. These robots mainly consist of manipulators, end-effectors, visual sensors and traveling devices. These mechanisms of the robot components were developed based on the physical properties of the work objects. The robots must work automatically by themselves in greenhouses or fields, since we are considering for one operator to tend several robots in the production system. The system is modeled after Japanese agriculture which is commonly seen to produce many kinds of crops in greenhouses and in many small fields intensively. Bioproduction in space is somewhat similar to the agricultural system in Japan, because few operators have to work in a small space. Employing robots for bioproduction in space is considered desirable in near future. The following is a description of the harvesting robots.

Agriculture↗
PubMed1996

Seasonal variation in levels of prostaglandins D2, E2 and F2(alpha) in the brain of a mammalian hibernator, the Asian chipmunk.

Seasonal changes in the in vivo levels of the prostaglandins (PGs) PGD2, PGE2, and PGF2(alpha) were measured in the brain of the male Asian chipmunk, Tamias asiaticus (n = 111), which underwent hibernation during the period between November and March. The mean level of PGD2 ranged from 36.0 to 85.2 pg/g tissue from June to October and remained essentially unchanged (80.5 pg/g tissue) in December. However, the mean PGD2 level rose significantly to 128.6 pg/g tissue in February, and returned to 75.2 pg/g tissue in the following April, suggesting a correlation between PGD2 and hibernation phenomenon. While PGE2 level did not vary significantly throughout the year, PGF2(alpha), which appeared to be the most abundant among the three prostanoids, showed a marked circannual rhythm with a trough of 51.6 pg/g tissue in July, rising to 391.6 pg/g tissue in February and reaching the peak value of 492.7 pg/g tissue in April, the reproduction period.

Animals↗
PubMed1996

Interferon-gamma and interleukin-4 production of ovalbumin-stimulated lymphocytes in egg-sensitive children.

BACKGROUND: The causal relation between egg allergy and cytokines derived from lymphocytes is unknown. OBJECTIVE: Interferon-gamma (IFN-gamma) and interleukin-4 (IL-4) production of ovalbumin-stimulated and interleukin-2 (IL-2)-stimulated peripheral blood mononuclear cells from egg-sensitive patients was investigated and compared with that of stimulated peripheral blood mononuclear cells from nonatopic healthy children. METHODS: Peripheral blood mononuclear cells from egg-sensitive patients and nonatopic healthy children were cultured with ovalbumin and IL-2 for seven days. The IFN-gamma and IL-4 concentrations in culture supernatants of the peripheral blood mononuclear cells were investigated. RESULTS: The levels of IFN-gamma production of only IL-2-stimulated or both ovalbumin-stimulated and IL-2-stimulated peripheral blood mononuclear cells from egg-sensitive patients with atopic dermatitis was significantly higher than that of healthy children and that of egg-sensitive patients with immediate allergic symptoms. CONCLUSIONS: Increased IFN-gamma production by lymphocytes after IL-2 and antigen stimulation has important implications for the mechanism of food-sensitive atopic dermatitis.

Cell-Free System↗
PubMed1996

The influence of exercise intensity on sweating efficiency of the whole body in a mild thermal condition.

To investigate whether the exercise intensity affects sweating efficiency (eta sw) during exercise under mild environmental conditions, six healthy males, aged 22 +/- 2 years, performed three bicycle ergometer exercises at varying intensities (73W: Ex-1, 103W: Ex-2 and 133W: Ex-3) for 40 min under the conditions of 25 degrees C room temperature, 50% relative humidity and 0.3-0.4 m s-1 wind velocity. Heart rate, oxygen consumption, rectal temperature (Tre), mean skin temperature (Tsk; 4 skin sites) and total sweat rate were determined intermittently throughout the experiments. Moreover, heat loss by evaporation (E), radiation (R), convection (C) and eta sw were calculated using the heat balance equations. The findings concerning thermoregulatory parameters under the three experimental conditions were summarized as follows: (1) the higher the exercise intensity, the larger the values of Tre and Tsk at the end of exercise and E, R and C during exercise (2) the mean values +/- SE of eta sw were 55.4 +/- 5.1, 63.2 +/- 5.2 and 58.5 +/- 1.9% for Ex-1, Ex-2 and Ex-3, respectively. The results suggest that exercise intensity would have no effect on eta sw in this mild thermal environment.

Adult↗
PubMed1996

Autosomal dominant pure cerebellar ataxia. A clinical and genetic analysis of eight Japanese families.

We carried out linkage analysis and clinical assessment on 41 patients with autosomal dominant pure cerebellar ataxia (ADCA) type III from eight Japanese families. The presenting symptom was gait ataxia in all patients, with the average age of onset at 46.0 +/- 9.0 (SD) years. The mean age of onset was 3.2 +/- 7.7 years earlier in offsprings than in their parents, suggesting mild, but not dramatic, anticipation. Other neurological features were restricted to cerebellar symptoms in spite of a long duration of illness of up to 41 years. The disease progression was uniformly slow, and earlier onset did not show different or severe clinical phenotype. Linkage analysis using four microsatellite markers (D11S905, D11S903, GATA2A01 and D11S913) excluded the first gene locus for ADCA type III [spinocerebellar ataxia (SCA) type 5]. The present study provides new genetic evidence, in addition to that suggested by clinical difference, that ADCA type III represents a group of heterogeneous conditions.

Adult↗
PubMed1996

Purification and properties of rat liver peroxisomal very-long-chain acyl-CoA synthetase.

It is generally accepted that there are two different acyl-CoA synthetases in rat liver peroxisomes. One is long-chain acyl-CoA synthetase, and the other very-long-chain acyl-CoA synthetase. Nowadays, the nature of long-chain acyl-CoA synthetase is well-known, but that of very-long-chain acyl-CoA synthetase remains unclear. Very-long-chain acyl-CoA synthetase has been extracted from the washed membrane fraction of frozen rat liver peroxisomes with a buffer containing a detergent, and has been purified by chromatography on Ultrogel AcA 34, calcium phosphate gel/cellulose, blue dextran-Sepharose 4B and DEAE-Toyopearl. The molecular masses of the native enzyme and the subunit were estimated to be 235 and 70 kDa, respectively. This enzyme showed marked differences in behavior from long-chain acyl-CoA synthetase during purification. The carbon chain length specificity of very-long-chain acyl-CoA synthetase differed from that of long-chain acyl-CoA synthetase. Very-long-chain acyl-CoA synthetase was active toward long- and very-long-chain fatty acids, but more active toward very-long-chain fatty acids compared with long-chain acyl-CoA synthetase. Antibodies against long-chain acyl-CoA synthetase did not cross-react to very-long-chain acyl-CoA synthetase. Based on these data, the final enzyme preparation is judged to be highly purified very-long-chain acyl-CoA synthetase from rat liver peroxisomes.

Acyl Coenzyme A↗