By Hugo W. Moser (auth.), Harry Harris, Kurt Hirschhorn (eds.)
The present quantity contains chapters on peroxisomal issues, genetic features of melanoma, Gaucher sickness, and different topics.
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Extra info for Advances in Human Genetics 21
1988a). Studies that utilized antibody to catalase gave completely different results. In Zellweger syndrome fibroblasts the catalase was found exclusively in the cytosol, whereas in control samples it was present in the peroxisome fraction. Wiemer et at. (1989) obtained similar results and added the important information that these findings also applied to samples from the Brul et at. (1988a) complementation groups 2, 3, and 4 (Table IV), which also include samples from patients with NALD, infantile Refsum disease, and hyperpipecolic acidemia.
Results of Complementation Analyses in Human Peroxisomal Disorders. Complementation Groups Roscher Poll-The 1 ZS, IR, NALD, HP (33) 1 CREF 2 RCDP (1) 3 ZS, IR (5) Brul I 2 3 4 5 33 RCDP (1) ZS, IR, HP (3) ZS (I) NALD (1) ZS (1) 2 3 4 5 6 ZS, NALD (2) ZS (2) ZS (5) ZS (1) NALD (1) McGuinness 1 ZS (3) 2 ZS, NALD (2) 3 ZS (1) 4 ZS (3) 6 NALD (2) 4 NALD (3) 5 ACOX (2) 7 ACOX (1) 8 BIF (1) 9 X-ALD (5) RCDp, Rhizomelic chondrodysplasia punctata; CREF, classical Refsum disease; ZS, Zellweger syndrome; IR, infantile Refsum disease; NALD, neonatal adrenoleukodystrophy; HP, hyperpipecolic acidemia; ACOX, acyl-CoA oxidase deficiency; BIF, bifunctional enzyme deficiency; X-ALD, X-linked adrenoleukodystrophy.
Martinez postulated that the reduced level of these fatty acids could be due to deficiency of a4 desaturase. , 1990). These fibroblasts did show greatly reduced capacity for the retroconversion of 22:6 w3 to eicosapentanoic acid (20:5 (3). This reaction requires the action of a4 enoyl-CoA reductase, which has been shown to be localized to the peroxisome. The impaired capacity to retroconvert C22:6 may cause it to be elongated to very long-chain polyunsaturated fatty acids that, as mentioned above, accumulate in Zellweger disease patients.