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      The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders

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          Abstract

          Peroxisomes are dynamic organelles that play an essential role in a variety of metabolic pathways. Peroxisomal dysfunction can lead to various biochemical abnormalities and result in abnormal metabolite levels, such as increased very long-chain fatty acid or reduced plasmalogen levels. The metabolite abnormalities in peroxisomal disorders are used in the diagnostics of these disorders. In this paper we discuss in detail the different diagnostic tests available for peroxisomal disorders and focus specifically on the important role of biochemical and functional studies in cultured skin fibroblasts in reaching the right diagnosis. Several examples are shown to underline the power of such studies.

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          Peroxisome biogenesis disorders.

          Gerald V. Raymond, Nancy Braverman, William Dodt … (2006)
          Defects in PEX genes impair peroxisome assembly and multiple metabolic pathways confined to this organelle, thus providing the biochemical and molecular bases of the peroxisome biogenesis disorders (PBD). PBD are divided into two types--Zellweger syndrome spectrum (ZSS) and rhizomelic chondrodysplasia punctata (RCDP). Biochemical studies performed in blood and urine are used to screen for the PBD. DNA testing is possible for all of the disorders, but is more challenging for the ZSS since 12 PEX genes are known to be associated with this spectrum of PBD. In contrast, PBD-RCDP is associated with defects in the PEX7 gene alone. Studies of the cellular and molecular defects in PBD patients have contributed significantly to our understanding of the role of each PEX gene in peroxisome assembly.
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            Functions and biosynthesis of plasmalogens in health and disease.

            Hans Waterham, Ronald J. A. Wanders, Pedro Brites (2004)
            Plasmalogens (1-O-alk-1'-enyl-2-acyl glycerophospholipids) constitute a special class of phospholipids characterized by the presence of a vinyl-ether bond at the sn-1 position. Although long considered as biological peculiarities, interest in this group of phospholipids has grown in recent years, thanks to the realization that plasmalogens are involved in different human diseases. In this review, we summarize the current state of knowledge with respect to the enzymatic synthesis of plasmalogens, the characteristic topology of the enzymes involved and the biological roles that have been assigned to plasmalogens.
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              Genetics and molecular basis of human peroxisome biogenesis disorders.

              Hans Waterham, Merel S Ebberink (2012)
              Human peroxisome biogenesis disorders (PBDs) are a heterogeneous group of autosomal recessive disorders comprised of two clinically distinct subtypes: the Zellweger syndrome spectrum (ZSS) disorders and rhizomelic chondrodysplasia punctata (RCDP) type 1. PBDs are caused by defects in any of at least 14 different PEX genes, which encode proteins involved in peroxisome assembly and proliferation. Thirteen of these genes are associated with ZSS disorders. The genetic heterogeneity among PBDs and the inability to predict from the biochemical and clinical phenotype of a patient with ZSS which of the currently known 13 PEX genes is defective, has fostered the development of different strategies to identify the causative gene defects. These include PEX cDNA transfection complementation assays followed by sequencing of the thus identified PEX genes, and a PEX gene screen in which the most frequently mutated exons of the different PEX genes are analyzed. The benefits of DNA testing for PBDs include carrier testing of relatives, early prenatal testing or preimplantation genetic diagnosis in families with a recurrence risk for ZSS disorders, and insight in genotype-phenotype correlations, which may eventually assist to improve patient management. In this review we describe the current status of genetic analysis and the molecular basis of PBDs. Copyright © 2012 Elsevier B.V. All rights reserved.
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                Author and article information

                Contributors
                Sacha Ferdinandusse: +31 20 5662485/5393 , s.ferdinandusse@amc.uva.nl
                Journal
                Journal ID (nlm-ta): J Inherit Metab Dis
                Journal ID (iso-abbrev): J. Inherit. Metab. Dis
                Title: Journal of Inherited Metabolic Disease
                Publisher: Springer Netherlands (Dordrecht )
                ISSN (Print): 0141-8955
                ISSN (Electronic): 1573-2665
                Publication date (Electronic): 4 March 2016
                Publication date PMC-release: 4 March 2016
                Publication date (Print): 2016
                Volume: 39
                Pages: 531-543
                Affiliations
                Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
                Author notes

                Communicated by: Matthias Baumgartner

                Article
                Publisher ID: 9922
                DOI: 10.1007/s10545-016-9922-4
                PMC ID: 4920857
                PubMed ID: 26943801
                SO-VID: 8d0fea0a-e091-47cc-a25d-8bb4309e3de5
                Copyright © © The Author(s) 2016
                License:

                Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.

                History
                Date received : 29 December 2015
                Date revision received : 9 February 2016
                Date accepted : 11 February 2016
                Categories
                Subject: Ssiem 2015
                Custom metadata
                issue-copyright-statement © SSIEM 2016

                ScienceOpen disciplines: Internal medicine
                Data availability:
                ScienceOpen disciplines: Internal medicine

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