Incidence of peroxisomal disorders in Japan

Suzuki, Yasuyuki; Shimozawa, Nobuyuki; Yajima, Shigehiro; Inoue, Kyoko; Orii, Tadao; Kondo, Naomi

doi:10.1007/bf01892624

Cited by 12 publications

(3 citation statements)

References 12 publications

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“…However, the metabolic functions of chro- In our present experiments, the presence of peroxisomeswas shownby immunofluorescencestaining, peroxisomal enzymeswere synthesized, and the peroxisomal /3-oxidation activity was detected. The peroxisomal /3oxidation activity was slightly lower than that reported in fibroblasts (19,21). L-bifunctional protein was hardly detectable as was the case with fibroblasts (20).…”

Section: Discussioncontrasting

confidence: 55%

Biochemical and Immunocytochemical Properties of Peroxisomes and Mitochondria in Bovine Chromaffin Cells.

Suzuki

Lee

Shimozawa

et al. 1997

Cell Struct. Funct.

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The biochemical and immunocytochemical properties of peroxisomal and mitochondria!^-oxidation enzymes in bovine adrenal chromaffin cells were investigated. Peroxisomes were detectable by immunofluorescence staining using antibodies against acyl-CoA oxidase, peroxisomal 3-ketoacyl-CoA thiolase and catalase. The mitochondria were abundantly stained with antibody against mitochondrial 3-ketoacyl-CoA thiolase. The biosynthesis and intracellular processing of acyl-CoA oxidase and the peroxisomal 3-ketoacyl-CoA thiolase was slower than that in fibroblasts. The peroxisomal^-oxidation activities shown by [1-14C] lignoceric acid oxidation were slightly lower than those in fibroblasts, whereas the mitochondrial^oxidation activities shown by [1-14C] palmitic acid oxidation were almost identical to those in fibroblasts. Adrenal chromaffin cells are useful materials for investigating the peroxisomal and mitochondrial metabolism of autonomic neurons and may contribute to the clarification of neuronal dysfunction in peroxisomal and mitochondrial disorders.

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Section: Discussioncontrasting

confidence: 55%

Biochemical and Immunocytochemical Properties of Peroxisomes and Mitochondria in Bovine Chromaffin Cells.

Suzuki

Lee

Shimozawa

et al. 1997

Cell Struct. Funct.

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“…Recently, we reported the first two patients with d-BP deficiency ) who were diagnosed as having l-BP deficiency by means of a complementation study using an established cell line with l-BP deficiency (Suzuki et al 1994a(Suzuki et al , 1996. Enzyme activity and d-BP immunoreactive material were markedly reduced compared with the controls, and deletions in the cDNA were identified .…”

Section: Introductionmentioning

confidence: 98%

Prenatal diagnosis of peroxisomal d-3-hydroxyacyl-CoA dehydratase / d-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency

et al. 1999

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“…VLCFA -oxidation in CAF and CCV has also been used (Wanders et al, 1991;Suzuki et al, 1991). In kindreds in which ALD gene mutation has been identified, this may be used for prenatal diagnosis (Suzuki et al, 1996).…”

Section: Introductionmentioning

confidence: 99%

ALDP expression in fetal cells and its application in prenatal diagnosis of X-linked adrenoleukodystrophy

et al. 1997

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X‐linked adrenoleukodystrophy (X‐ALD) is due to an impairment in the peroxisomal β‐oxidation of very long straight chain fatty acids (VLCFAs) and the gene involved encodes a 75 kD protein (ALDP). Prenatal diagnosis is usually made by measurement of VLCFAs in cultured amniotic fluid cells (CAF) and chorionic villus cells (CCV), but some misdiagnoses have been reported. For this reason, some authors suggest the use of more than one strategy to minimize the risk of pitfalls. In this study we show, by immunochemical techniques, that ALDP is expressed in chorionic villi and amniotic cells and can be used for prenatal diagnosis of X‐ALD in kindreds where ALDP is absent (69–84 per cent), together with VLCFA determination. Moreover, we demonstrate that the culture medium modifies ALDP expression; therefore, it is a factor that must be taken into account when a prenatal diagnosis is done. © 1997 John Wiley & Sons, Ltd.

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Incidence of peroxisomal disorders in Japan

Cited by 12 publications

References 12 publications

Biochemical and Immunocytochemical Properties of Peroxisomes and Mitochondria in Bovine Chromaffin Cells.

Biochemical and Immunocytochemical Properties of Peroxisomes and Mitochondria in Bovine Chromaffin Cells.

Prenatal diagnosis of peroxisomal d-3-hydroxyacyl-CoA dehydratase / d-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency

ALDP expression in fetal cells and its application in prenatal diagnosis of X-linked adrenoleukodystrophy

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