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Biomedical subjects

T Fukao

Publications and source records attributed to T Fukao.

At least 127 records · Page 7Linked to original sources
PubMed1991

Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency.

The molecular basis of 3-ketothiolase deficiency (3KTD) was examined in a 3KTD family. Immunochemical analyses showed that mitochondrial acetoacetyl-CoA thiolase (T2) biosynthesized in the patient's fibroblasts (GK06) was unstable and that the parents and brother were obligatory carriers of 3KTD. When sequencing the PCR-amplified patient's T2 cDNA, we noted a G to A replacement which caused 347Ala to Thr substitution of the mature T2 subunit. Transfection analysis revealed that this substitution resulted in an instability of the T2 protein. Analyses of the T2 cDNA and gene of the family indicated that the patient was a compound heterozygote; the allele that derived from the mother had a point mutation (347Ala to Thr) and the other allele from the father has a mutation which would abolish the T2 gene expression. This report is apparently the first definition of a mutant allele for 3KTD, at the gene level.

Acetyl-CoA C-Acyltransferase↗
PubMed1991

Prenatal diagnosis and neonatal monitoring of a fetus with glutaric aciduria type II due to electron transfer flavoprotein (beta-subunit) deficiency.

The prenatal diagnosis of a male fetus with glutaric aciduria type II and the time course of metabolite urinary excretion, starting immediately after birth, are described. Prenatal diagnosis was undertaken at the 17th wk of gestation by immunoblot analysis and pulse labeling experiments of amniocytes and, retrospectively, by stable isotope dilution analysis of six metabolites in amniotic fluid. The results were as follows: 1) The immunochemical analysis on cultured amniocytes showed that the fetus, as the previous index case in this family, was affected with a deficiency of the beta-subunit of electron transfer flavoprotein. 2) Glutarate concentration was significantly increased in the cell-free supernatant of the amniotic fluid. In the postnatal period, most of the organic acids and acylglycines characteristic of the disorder appeared in urine within a week, although an increased excretion of hexanoylglycine was the only biochemical abnormality detectable in the first urine sample collected at 9 h after birth. Growth and development of this infant were normal during the following 6 mo of life, when he was receiving oral supplementation with L-carnitine and riboflavin. It should be underscored that transient abnormalities in routine blood tests (glutamic oxaloacetic transaminase, lactate dehydrogenase, and creatine phosphokinase) were present soon after birth, despite his asymptomatic clinical course. Early detection and aggressive treatment could be effective in such a form of glutaric aciduria type II.

Amniotic Fluid↗
PubMed1991

[Fluoride uptake from fluoride releasing resin as an orthodontic adhesive on human enamel].

FluoroBond is one kind of fluoride releasing, visible light-activated bonding system for orthodontic bracket placement. The first aim of this study was to investigate the fluoride release from FluoroBond. The second aim of this study was to determine the fluoride uptake by human enamel which was immersed in distilled water for 30 days in contact with FluoroBond. The third aim of this study was to demonstrate the fluoride uptake by human enamel adjacent to the bracket as well as by the human enamel beneath the bracket which was placed using FluoroBond, and immersed for 30 days in distilled water. The results obtained were as follows. 1) A great amount of fluoride was released from FluoroBond immediately after immersion. The fluoride released weakend rapidly over the first 10 days. However, the fluoride released became stable after the 10th day. 2) The uptake of fluoride from FluoroBond was large both on the surface and the subsurface enamel in contact with it. 3) When FluoroBond was used as a bracket bonding material, fluoride was absorbed from FluoroBond by the enamel not only under the bracket but also adjacent to the bracket.

Delayed-Action Preparations↗
PubMed1990

Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency.

Complementary DNAs encoding the precursor of human hepatic mitochondrial acetoacetyl-CoA thiolase (T2) (EC 2.3.1.9) were cloned and sequenced. The cDNA inserts in these clones were 1,518 bases in length when overlapped, and encoded the 427-amino acid precursor of this enzyme (45,199 mol wt). This amino acid sequence included a 33-residue leader peptide moiety and a 394-amino acid subunit of the mature enzyme (41,385 mol wt). The T2 gene expression in fibroblasts from four patients with 3-ketothiolase deficiency was analyzed by Northern blotting. The T2 mRNA in all four cell lines had the same 1.7 kb as that of the control. However, the amounts of T2 mRNA differed: the content was reduced in two cell lines (cases 1 and 3), whereas it was within a normal range in others (cases 2 and 4). Pulse labeling followed by subcellular fractionation revealed that the T2 proteins in the fibroblasts from these patients are present in the mitochondria. These results suggest that different mechanisms are involved in the enzyme defects in the four patients.

Acetyl-CoA C-Acetyltransferase↗
PubMed1990

[Effects of fluoride releasing resin on the denture base on bovine enamel].

The first aim of this study was to investigate the amount of fluoride released from fluoride releasing resin for the denture base (F-resin). The second aim of this study was to determine the uptake of fluoride with bovine enamel, which was immersed in distilled water for 90 days in contact with F-resin. The results obtained were as follows: 1) The amount of fluoride released from F-resin decreased gradually. From the 10th day of immersion, the amount of fluoride released was almost constant. The fluoride could be detected on the 90th day. 2) The uptake of fluoride from F-resin was great both on the surface and the subsurface enamel. 3) The uptake of fluoride from F-resin was almost proportional to the immersing time.

Animals↗
PubMed1989

Molecular cloning and nucleotide sequence of cDNA encoding the entire precursor of rat mitochondrial acetoacetyl-CoA thiolase.

cDNA clones for rat mitochondrial acetoacetyl-CoA thiolase were isolated and sequenced. The most 5'-extended clone (RT2-6) consisted of 1,460 bases and contained a 1,272-base open reading frame encoding a polypeptide of 424 amino acid residues. A coupled in vitro transcription/translation analysis of RT2-6 revealed that RT2-6 encodes the entire precursor of this enzyme. The amino-terminal sequence and amino acid composition of the purified enzyme agreed with the primary structure deduced from the cDNA. The calculated molecular masses of the precursor and the subunit of the mature enzyme are 44,694 and 41,364 Da, respectively. The primary structure of this enzyme was compared with those of four other thiolases (rat mitochondrial and peroxisomal 3-ketoacyl-CoA thiolases, acetoacetyl-CoA thiolase of Zoogloea ramigera, and cytosolic acetoacetyl-CoA thiolase of Saccharomyces uvarum). Marked homology between any two of them (34-51% identity) indicates that the genes of thiolases have evolved from a common ancestral gene. It has been reported that this enzyme has two isoenzymes A and B. However, the purified isoenzymes were indistinguishable from each other in some analyses. Though 17 independent cDNA clones were isolated, no definite evidence indicating the presence of different cDNAs was found.

Acetyl-CoA C-Acetyltransferase↗
PubMed1989

[Effect of fluoride releasing composite resin on bovine enamel].

FluorEver is one kind of fluoride releasing composite resin. The first aim of this study was to investigate the amount of fluoride released from FluorEver. The second aim of this study was to determine the uptake of fluoride with bovine enamel, which was immersed in distilled water for 28 days in contact with FluorEver, compared with Fuji Ionomer cement which released fluoride. The results obtained were as follows. 1) A great amount of fluoride was released from FluorEver immediately after immersion. Twenty-four hours after immersion, the amount of released fluoride decreased quickly. From the 3rd day of immersion, the amount of fluoride released decreased gradually. The fluoride could be detected on the 28th day. 2) The amount of fluoride released from FluorEver was almost directly proportional to the volume of FluorEver blocks used. 3) The uptake of fluoride on enamel in contact with FluorEver was significantly high. 4) The release pattern of the fluoride of Fuji Ionomer was similar to that of FluorEver. The amount of fluoride released from Fuji Ionomer was greater than that of FluorEver immediately after immersion. However, from the 7th day of immersion, that of Fuji Ionomer was less than that of FluorEver. 5) The uptake of fluoride from FluorEver on the surface enamel was less than that of Fuji Ionomer. However, the uptake of fluoride from FluorEver on the subsurface enamel was greater than that of Fuji Ionomer.

Animals↗
PubMed1989

[Case report on the Ehlers-Danlos syndrome].

The Ehlers-Danlos syndrome is a hereditary disease of the connective tissue, characterized by tendencies of hyperextensibility and fragility of the skin, and hypermobility of the joints. We are reporting in this paper on a 4 year, 4 month old boy with the Ehlers-Danlos syndrome, Type III. The following findings were obtained: 1) In addition to the three main symptoms the complications of exotropia, low position of the auricle, defect of the right musculuspectoralis major, right double thumbs, dislocation of hip joint, right inguinal hernia, right undescended testis and pes planovalgus were found. 2) Based on histopathological tissue examination, hypoplasia of the collagen fibers and the elastic fibers was found. 3) The occlusion was edge to edge, the plate was high arched and the upper and the lower dental arches were contracted. 4) The mesiodistal lengths of all primary teeth and the lengths and widths of the dental arches were smaller than the standard size. 5) The orthopantomo and dental x-rays revealed a tendency toward late calcification of the deciduous teeth and permanent teeth germs, and the stricture of the root canals. 6) According to x-ray cephalometric analysis, retardation of the growth of the upper face as well as the maxilla and mandibula was found.

Child, Preschool↗
PubMed1989

[A case of Prader-Willi syndrome].

Prader-Willi syndrome is characterized by hypotonia, hypomentia, hypogonadism and obesity. A case of a 10-year-5-month-old girl who was diagnosed to have the typical symptoms associated with the Prader-Willi syndrome is described in the present report. The following are the dental findings. 1) Enamel hypoplasia, crowding over the anterior teeth and narrow dental arch were found. However there was no high palate in the maxilla. 2) The mesio-distal width of the present teeth were small compared with the national average. 3) According to X-ray cephalometric analysis, a retardation of the growth of the maxilla and mandible was found. 4) Because of hypomentia and the difficult management of the patient, dental treatment was performed under general anesthesia.

Cephalometry↗
PubMed1981

Applicability of the potentiometric titration method to the analysis of the expansion process of bovine plasma albumin in acidic solutions.

To study the expansion process of bovine plasma albumin in acidic solutions, observed potentiometric titration curves at three different ionic strengths were compared with theoretical curves, using the radii of the protein determined by small angle X-ray scattering (SAXS). From the comparison, it was concluded that the expansion is completed via two different transitions and that the conformation of the protein before the first transition is stable and common at all ionic strengths, whereas the form of the protein becomes a more swollen and unstable one after the first transition. Moreover, the charge-independent part of the standard free energy change, delta G0, in the first transition was estimated from the potentiometric titration curves. The numerical value of delta G0 is 2350 +/- 50 cal/mol, which is very small compared with the corresponding one for ordinary biopolymers.

Animals↗
PubMed1975

Staphylococcal footpad infection in mice.

Local footpad infection in mouse was investigated with 55 clinically isolated strains of Staphylococcus aureus. When 10(7) viable cells were inoculated into the footpad, local swelling and bacterial growth resulted after 24 hr. With a dose of 10(6) cells, moderate swelling was observed after a few hours but the reaction had almost disappeared after 24 hr. About 75% of the staphylococcal strains tested caused footpad edema in mice at doses of 10(7) cells. A statistical comparison of the virulence of the organisms on intravenous and intraperitoneal injection with that in inducing footpad swelling is also reported.

Ampicillin↗