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Research Article| Volume 16, ISSUE 1, P27-31, January 1994

Prenatal diagnosis of peroxisomal disorders Biochemical and immunocytochemical studies on peroxisomes in human amniocytes

DOI:https://doi.org/10.1016/0387-7604(94)90109-0
Prenatal diagnosis of peroxisomal disorders Biochemical and immunocytochemical studies on peroxisomes in human amniocytes
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      Abstract

      Prenatal diagnoses of peroxisomal disorders, including peroxisome-deficient Zellweger syndrome, isolated deficiency of peroxisomal β-oxidation enzyme and rhizomelic type chondrodysplasia punctata were investigated by means of the lignoceric acid oxidation assay, indirect immunofluorescence staining and pulse-chase experiments, using cultured amniocytes. Assessment of peroxisomal β-oxidation activity by means of [1-14C]lignoceric acid oxidation is essential for the diagnosis of a single enzyme deficiency of peroxisomal β-oxidation with detectable enzyme protein. For the diagnosis of Zellweger syndrome, the absence of peroxisomes was readily determined by immunofluorescence staining of only a few aminocytes. Evidence for abnormal processing of 3-ketoacyl-CoA thiolase leads to the diagnosis of rhizomelic chondrodysplasia punctata. All the fetuses were considered to be normal and the neonates were normal. Use of these methods requires only a small number of amniocytes and will facilitate the prenatal diagnosis of peroxisomal disorders.

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      References

        • Lazarow P.B.
        • Moser H.W.
        Disorders of peroxisome biogenesis.
        in: Scriver C.R. Beaudet A.L. Sly W.S. Valle D The metabolic basis of inherited disease. 6th edn. McGraw-Hill, New York1989: 1479-1509
        • Shimozawa N
        • Suzuki Y
        • Orii T
        • Moser A
        • Moser H.W.
        • Wanders R.J.A.
        Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisome assembly factor-1 (PAF-1) defect.
        Am J Hum Genet. 1993; 52: 843-844
        • Shimozawa N
        • Tsukamoto T
        • Suzuki Y
        • et al.
        A human gene responsible for Zellweger syndrome that affects peroxisome assembly.
        Science. 1992; 255: 1132-1134
        • Shimozawa N
        • Suzuki Y
        • Orii T
        • Tsukamoto T
        • Fujiki Y
        Prenatal diagnosis of Zellweger syndrome using DNA analysis.
        Prenat Diagn. 1993; 13: 149
        • Hoefler G
        • Hoefler S
        • Watkins P.A.
        • et al.
        Biochemical abnormalities in rhizomelic chondrodysplasia punctata.
        J Pediatr. 1988; 112: 726-733
        • Schram A.W.
        • Goldfischer S
        • van Roermund C.W.T.
        • et al.
        Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency.
        in: Proc Natl Acad Sci USA. 84. 1987: 2494-2496
        • Poll-The B.T.
        • Roels F
        • Ogier H
        • et al.
        A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy).
        Am J Hum Genet. 1988; 42: 422-434
        • Watkins P.A.
        • Chen W.W.
        • Harris C.J.
        • et al.
        Peroxisomal bifunctional enzyme deficiency.
        J Clin Invest. 1989; 83: 771-777
        • Wanders R.J.A.
        • Schutgens R.B.H.
        • van den Bosch H
        • Tager J.M.
        • Kleijer W.J.
        Prenatal diagnosis of inborn errors in peroxisomal β-oxidation.
        Prenat Diagn. 1991; 11: 253-261
        • Suzuki Y
        • Shimozawa N
        • Yajima S
        • Yamaguchi S
        • Orii T
        • Hashimoto T
        Effects of sodium 2-[5-(4-chlorophenyl)pentyl]-oxirane-2-car☐ylate (POCA) on fatty acid oxidation in fibroblasts from patients with peroxisomal diseases.
        Biochem Pharmacol. 1991; 41: 453-456
        • Suzuki Y
        • Shimozawa N
        • Yajima S
        • et al.
        Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis.
        Am J Hum Genet. 1994; (in press)
        • Suzuki Y
        • Shimozawa N
        • Izai K
        • Uchida Y
        • Miura K
        • Akatsuka H
        • et al.
        Peroxisomal 3-ketoacyl-CoA thiolase is partially processed in fibroblasts from patients with rhizomelic chondrodysplasia punctata.
        J Inher Metab Dis. 1993; 16: 872-875
        • Suzuki Y
        • Yamaguchi S
        • Orii T
        • Tsuneoka M
        • Tashiro Y
        Non-specific lipid transfer protein (sterol carrier protein-2) defective in patients with deficient peroxisomes.
        Cell Struct Funct. 1990; 15: 301-308
        • Wanders R.J.A.
        • Wiemer E.A.C.
        • Brul S
        • Schutgens R.B.H.
        • van den Bosch H
        • Tager J.M.
        Prenatal diagnosis of Zellweger syndrome by direct visualiaztion of peroxisomes in chorionic villus fibroblasts by immunofluorescence microscopy.
        J Inher Metab Dis. 1989; 12: 301-304
        • Suzuki Y
        • Shimozawa N
        • Orii T
        • Igarashi N
        • Kono N
        • Hashimoto T
        Molecular analysis of peroxisomal β-oxidation enzymes in infants with Zellweger syndrome and Zellweger-like syndrome: further heterogeneity of the peroxisomal disorder.
        Clin Chim Acta. 1988; 172: 65-76
        • Shimozawa N
        • Suzuki Y
        • Orii T
        • Hashimoto T
        Immunoblot detection of enzyme proteins of peroxisomal β-oxidation in fibroblasts, amniocytes, and chorionic villous cells: possible marker for prenatal diagnosis of Zellweger syndrome.
        Prenat Diagn. 1988; 8: 287-290
        • Schutgens R.B.H.
        • Romeyn G.J.
        • Wanders R.J.A.
        • van den Bosch H
        • Schrakamp G
        • Heymans H.S.A.
        Deficiency of acyl-CoA: dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome.
        Biochem Biophys Res Commun. 1984; 120: 179-184
        • Moser A.B.
        • Singh I
        • Brown F.R.
        • Solish G.I.
        • Kelley R.I.
        • Benke P.J.
        • Moser H.W.
        The cerebrohepatorenal (Zellweger) syndrome: increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis.
        N Engl J Med. 1984; 310: 1141-1146

      Article info

      Publication history

      Accepted: August 25, 1993
      Received: April 4, 1993

      Identification

      DOI: https://doi.org/10.1016/0387-7604(94)90109-0

      Copyright

      © 1994 Elsevier Science B.V. All rights reserved. Published by Elsevier Inc.

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