Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives

Developmental Disabilities Research Reviews

Volumn 17, Issue 3, 2013, Pages 187-196

  Braverman, Nancy E ^a,b   D'Agostino, Maria Daniela ^b   MacLean, Gillian E ^a  

^a MCGILL UNIVERSITY   (Canada)

^b MONTREAL CHILDREN S HOSPITAL   (Canada)

Author keywords

Peroxisomal enzyme function; Peroxisome biogenesis disorders; Pharmacological therapies; Rhizomelic chondrodysplasia punctata; Zellweger spectrum disorder

Indexed keywords

ANTIBIOTIC G 418; FLAVONOID; PLASMALOGEN; PROTEIN KINASE C INHIBITOR; PHEX PROTEIN, HUMAN; PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE;

ADRENOLEUKODYSTROPHY; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOCHEMISTRY; BIOGENESIS; CALCIUM OXALATE STONE; CATARACT; CEREBELLAR ATAXIA; CHONDRODYSPLASIA PUNCTATA; CLINICAL FEATURE; CRANIOFACIAL MALFORMATION; DISEASE SEVERITY; DISORDERS OF PEROXISOMAL FUNCTIONS; ENZYME DEFICIENCY; FAILURE TO THRIVE; FEEDING DISORDER; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; HEPATOMEGALY; HUMAN; INFANTILE REFSUM DISEASE; LEUKODYSTROPHY; LIVER DYSFUNCTION; MUSCLE HYPOTONIA; NEONATAL HYPERBILIRUBINEMIA; NEURONAL MIGRATION DISORDER; NEWBORN DISEASE; NONHUMAN; ONSET AGE; PALLIATIVE THERAPY; PATHOPHYSIOLOGY; PERCEPTION DEAFNESS; PERIPHERAL NEUROPATHY; PEROXISOME; PEROXISOME BIOGENESIS DISORDER; PEX GENE; PHARMACEUTICAL CARE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; PSYCHOMOTOR RETARDATION; RETINA DISEASE; ZELLWEGER SYNDROME; AGE; ANIMAL; DRUG EFFECTS; GENETICS; METABOLISM; MUTATION; PEROXISOMAL DISORDERS;

AGE FACTORS; AGE OF ONSET; ANIMALS; HUMANS; MUTATION; PEROXISOMAL DISORDERS; PEROXISOMES; PHENOTYPE; PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; ZELLWEGER SYNDROME;

EID: 84893398229     PISSN: 19405510     EISSN: 19405529     Source Type: Journal    
DOI: 10.1002/ddrr.1113     Document Type: Article

References (98)

1. Ashmarina LI, Pshezhetsky AV, Branda SS, Isaya G, Mitchell GA. 1999. 3-Hydroxy-3-methylglutaryl coenzyme A lyase: targeting and processing in peroxisomes and mitochondria. J Lipid Res 40:70-75
2. Baes M, Aubourg P. 2009. Peroxisomes, myelination, and axonal integrity in the CNS. Neuroscientist 15:367-379
3. Baes M, Van Veldhoven PP. 2006. Generalised and conditional inactivation of Pex genes in mice. Biochim Biophys Acta 1763:1785- 1793
4. Bams-Mengerink AM, Majoie CB, Duran M, et al. 2006. MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata. Neurology 66:798-803; discussion 789
5. Barkovich AJ, Peck WW. 1997. MR of Zellweger syndrome. AJNR Am J Neuroradiol 18:1163-1170
6. Barth PG, Majoie CB, Gootjes J, et al. 2004. Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival. Neurology 62:439-444
7. Bowers WE. 1998. Christian de Duve and the discovery of lysosomes and peroxisomes. Trends Cell Biol 8:330-333
8. Braverman N, Chen L, Lin P, et al. 2002. Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. Hum Mutat 20:284-297
9. Braverman N, Moser A. 2012. Functions of plasmalogen lipids in health and disease. Biochim Biophys Acta-Mol Basis Dis 9:1442- 1452
10. Braverman N, Zhang R, Chen L, et al. 2010. A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton. Mol Genet Metab 99:408-416
11. Brites P, Ferreira AS, da Silva TF, et al. 2011. Alkyl-glycerol rescues plasmalogen levels and pathology of ether-phospholipid deficient mice. PLoS One 6:e28539
12. Brites P, Motley AM, Gressens P, et al. 2003. Impaired neuronal migration andendochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. Hum Mol Genet 12:2255- 2267
13. Chang CC, South S, Warren D, et al. 1999. Metabolic control of peroxisome abundance. J Cell Sci 112 (Part 10):1579-1590
14. Das AK, Holmes RD, Wilson GN, et al. 1992. Dietary ether lipid incorporation into tissue plasmalogens of humans and rodents. Lipids 27:401-405
15. Dirkx R, Vanhorebeek I, Martens K, et al. 2005. Absence of peroxisomes in mouse hepatocytes causes mitochondrial and ER abnormalities. Hepatology 41:868-878
16. Dranchak PK, Di Pietro E, Snowden A, et al. 2011. Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations. J Cell Biochem 112:1250- 1258
17. Ebberink MS, Csanyi B, Chong WK, et al. 2010. Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. J Med Genet 47:608-615
18. Ebberink MS, Mooijer PA, Gootjes J, et al. 2011. Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. Hum Mutat 32:59-69
19. Farre JC, Subramani S. 2004. Peroxisome turnover by micropexophagy: an autophagyrelated process. Trends Cell Biol 14:515- 523
20. Faust PL. 2003. Abnormal cerebellar histogenesis in PEX2 Zellweger mice reflects multiple neuronal defects induced by peroxisome deficiency. J Comp Neurol 461:394-413
21. Ferdinandusse S, Denis S, Ijlst L, et al. 2000. Subcellular localization and physiological role of alpha-methylacyl-CoA racemase. J Lipid Res 41:1890-1896
22. Goldfischer S, Moore CL, Johnson AB, et al. 1973. Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome. Science 182:62-64
23. Gonzalez FJ, Shah YM. 2008. PPARalpha: mechanism of species differences and hepatocarcinogenesis of peroxisome proliferators. Toxicology 246:2-8
24. Grimm I, Saffian D, Platta HW, et al. 2012. The AAA-type ATPases Pex1p and Pex6p and their role in peroxisomal matrix protein import in Saccharomyces cerevisiae. Biochim Biophys Acta 1823:150-158
25. Hanson PI, Whiteheart SW. 2005. AAA1 proteins: have engine, will work. Nat Rev Mol Cell Biol 6:519-529
26. Heymans HS, Oorthuys JW, Nelck G, et al. 1985. Rhizomelic chondrodysplasia punctata: another peroxisomal disorder. N Engl J Med 313:187-188
27. Heymans HS, Schutgens RB, Tan R, et al. 1983. Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome). Nature 306:69-70
28. Huybrechts SJ, Van Veldhoven PP, Brees C, et al. 2009. Peroxisome dynamics in cultured mammalian cells. Traffic 10:1722- 1733
29. Islinger M, Li KW, Seitz J, et al. 2009. Hitchhiking of Cu/Zn superoxide dismutase to peroxisomes- evidence for a natural piggyback import mechanism in mammals. Traffic 10:1711-1721
30. Itzkovitz B, Jiralerspong S, Nimmo G, et al. 2011. Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. Hum Mutat 33:189-197
31. Janssen A, Baes M, Gressens P, et al. 2000. Docosahexaenoic acid deficit is not a major pathogenic factor in peroxisome-deficient mice. Lab Invest 80:31-35
32. Jungwirth H, Ring J, Mayer T, et al. 2008. Loss of peroxisome function triggers necrosis. FEBS Lett 582:2882-2886
33. Kase BF, Bjorkhem I, Haga P, et al. 1985. Defective peroxisomal cleavage of the C27-steroid side chain in the cerebro-hepato-renal syndrome of Zellweger. J Clin Invest 75:427- 435
34. Kassmann CM, Lappe-Siefke C, Baes M, et al. 2007. Axonal loss and neuroinflammation caused by peroxisome-deficient oligodendrocytes. Nat Genet 39:969-976
35. Katayama K, Masuyama K, Yoshioka S, et al. 2007. Flavonoids inhibit breast cancer resistance protein-mediated drug resistance: transporter specificity and structure-activity relationship. Cancer Chemother Pharmacol 60:789-797
36. Keane MH, Overmars H, Wikander TM, et al. 2007. Bile acid treatment alters hepatic disease and bile acid transport in peroxisomedeficient PEX2 Zellweger mice. Hepatology 45:982-997
37. Krysko O, Bottelbergs A, Van Veldhoven P, et al. 2010. Combined deficiency of peroxisomal beta-oxidation and ether lipid synthesis in mice causes only minor cortical neuronal migration defects but severe hypotonia. Mol Genet Metab 100:71-76
38. Krysko O, Hulshagen L, Janssen A, et al. 2007. Neocortical and cerebellar developmental abnormalities in conditions of selective elimination of peroxisomes from brain or from liver. J Neurosci Res 85:58-72
39. Kulkarni KS, Baranano KW, Lin DD, et al. 2011. Contrast enhancement of brainstem tracts in Zellweger spectrum disorder: evidence of inflammatory demyelination? Neuropediatrics 42:32-34
40. Kunze M, Neuberger G, Maurer-Stroh S, et al. 2011. Structural requirements for interaction of peroxisomal targeting signal 2 and its receptor PEX7. J Biol Chem 286:45048- 45062
41. Leiper JM, Danpure CJ. 1996. The role of dimerization of alanine:glyoxylate aminotransferase 1 in its peroxisomal and mitochondrial import. Ann NY Acad Sci 804:765-767
42. Li X, Baumgart E, Dong GX, et al. 2002. PEX11alpha is required for peroxisome proliferation in response to 4-phenylbutyrate but is dispensable for peroxisome proliferator-activated receptor alpha-mediated peroxisome proliferation. Mol Cell Biol 22:8226- 8240
43. Li X, Baumgart E, Morrell JC, et al. 2002. PEX11 beta deficiency is lethal and impairs neuronal migration but does not abrogate peroxisome function. Mol Cell Biol 22:4358-4365
44. Liegel R, Chang B, Dubielzig R, et al. 2011. Blind sterile 2 (bs2), a hypomorphic mutation in Agps, results in cataracts and male sterility in mice. Mol Genet Metab 103:51- 59
45. Lu H, Chang DJ, Baratte B, et al. 2005. Crystal structure of a human cyclin-dependent kinase 6 complex with a flavonol inhibitor, fisetin. J Med Chem 48:737-743
46. Luo B, Norris C, Bolstad ES, et al. 2008. Protein quaternary structure and expression levels contribute to peroxisomal-targetingsequence-1-mediated peroxisomal import of human soluble epoxide hydrolase. J Mol Biol 380:31-41
47. Ma C, Agrawal G, Subramani S. 2011. Peroxisome assembly: matrix and membrane protein biogenesis. J Cell Biol 193:7-16
48. MacCollin M, De Vivo DC, Moser AB, et al. 1990. Ataxia and peripheral neuropathy: a benign variant of peroxisome dysgenesis. Ann Neurol 28:833-836
49. Maeda K, Kimura A, Yamato Y, et al. 2002. Oral bile acid treatment in two Japanese patients with Zellweger syndrome. J Pediatr Gastroenterol Nutr 35:227-230
50. Majewski J, Wang Z, Lopez I, et al. 2011. A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing. J Med Genet 48:593-596
51. Mast FD, Fagarasanu A, Knoblach B, et al. 2011. Peroxisome biogenesis: something old, something new, something borrowed. Physiology (Bethesda) 25:347-356
52. Meinecke M, Cizmowski C, Schliebs W, et al. 2010. The peroxisomal importomer constitutes a large and highly dynamic pore. Nat Cell Biol 12:273-277
53. Mihalik SJ, Morrell JC, Kim D, et al. 1997. Identification of PAHX, a Refsum disease gene. Nat Genet 17:185-189
54. Moser AE, Singh I, Brown FR III, et al. 1984. 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 310:1141-1146
55. Miyata N, Fujiki Y. 2005. Shuttling mechanism of peroxisome targeting signal type 1 receptor Pex5: ATP-independent import and ATP-dependent export. Mol Cell Biol 24:10822-10832
56. Nguyen SD, Baes M, Van Veldhoven PP. 2008. Degradation of very long chain dicarboxylic polyunsaturated fatty acids in mouse hepatocytes, a peroxisomal process. Biochim Biophys Acta 1781:400-405
57. Noguer MT, Martinez M. 2010. Visual follow-up in peroxisomal-disorder patients treated with docosahexaenoic Acid ethyl ester. Invest Ophthalmol Vis Sci 51:2277-2285
58. Nuttall JM, Motley A, Hettema EH. 2011. Peroxisome biogenesis: recent advances. Curr Opin Cell Biol 23:421-426
59. Opalinski Ł, Veenhuis M, van der Klei IJ. 2011. Peroxisomes: membrane events accompanying peroxisome proliferation. Int J Biochem Cell Biol 6:847-851
60. Paker AM, Sunness JS, Brereton NH, et al. 2010. Docosahexaenoic acid therapy in peroxisomal diseases: results of a double-blind, randomized trial. Neurology 75:826-830
61. Platta HW, Debelyy MO, El Magraoui F, et al. 2008. The AAA peroxins Pex1p and Pex6p function as dislocases for the ubiquitinated peroxisomal import receptor Pex5p. Biochem Soc Trans 36(Part 1):99-104
62. Platta HW, El Magraoui F, Schlee D, et al. 2007. Ubiquitination of the peroxisomal import receptor Pex5p is required for its recycling. J Cell Biol 177:197-204
63. Poll-The BT, Gootjes J, Duran M, et al. 2004. Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. Am J Med Genet A 126A:333-338
64. Prestele J, Hierl G, Scherling C, et al. 2010. Different functions of the C3HC4 zinc RING finger peroxins PEX10, PEX2, and PEX12in peroxisome formation and matrix protein import. Proc Natl Acad Sci USA 107:14915-14920
65. Raas-Rothschild A, Wanders RJ, Mooijer PA, et al. 2002. A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. Am J Hum Genet 70:1062- 1068
66. Regal L, Ebberink MS, Goemans N, et al. 2010. Mutations in PEX10 are a cause of autosomal recessive ataxia. Ann Neurol 68:259- 263
67. Roels F, Saudubray JM, Giros M, et al. 2003. Peroxisome mosaics. Adv Exp Med Biol 544:97-106
68. Rucktaschel R, Girzalsky W, Erdmann R. 2011. Protein import machineries of peroxisomes. Biochim Biophys Acta 1808:892-900
69. Seo JG, Lai CY, Miceli MV, et al. 2007. A novel role of peroxin PEX6: suppression of aging defects in mitochondria. Aging Cell 6:405- 413
70. Setchell KD, Bragetti P, Zimmer-Nechemias L, et al. 1992. Oral bile acid treatment and the patient with Zellweger syndrome. Hepatology 15:198-207
71. Sevin C, Ferdinandusse S, Waterham HR, et al. 2011. Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene. Orphanet J Rare Dis 6:8
72. Sexton JZ, He Q, Forsberg LJ, et al. 2010. High content screening for non-classical peroxisome proliferators. Int J High Throughput Screen 2010:127-140
73. Sokal EM, Smets F, Bourgois A, et al. 2003. Hepatocyte transplantation in a 4-year-old girl with peroxisomal biogenesis disease: technique, safety, and metabolic follow-up. Transplantation 76:735-738
74. Steinberg S, Chen L, Wei L, et al. 2004. The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. Mol Genet Metab 83:252-263
75. Steinberg SJ, Dodt G, Raymond GV, et al. 2006. Peroxisome biogenesis disorders. Biochim Biophys Acta 1763:1733-1748
76. Steinberg SJ, Snowden A, Braverman NE, et al. 2009. A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts. J Inherit Metab Dis 32:109-119
77. Su HM, Moser AB, Moser HW, et al. 2001. Peroxisomal straight-chain Acyl-CoA oxidase and D-bifunctional protein are essential for the retroconversion step in docosahexaenoic acid synthesis. J Biol Chem 276:38115- 38120
78. Teigler A, Komljenovic D, Draguhn A, et al. 2009. Defects in myelination, paranode organization and Purkinje cell innervation in the ether lipid-deficient mouse cerebellum. Hum Mol Genet 18:1897-1908
79. Thoms S, Erdmann R. 2005. Dynamin-related proteins and Pex11 proteins in peroxisome division and proliferation. FEBS J 272:5169- 5181
80. Vale RD. 2000. AAA proteins. Lords of the ring. J Cell Biol 150:F13-F19
81. van den Brink DM, Brites P, Haasjes J, et al. 2003. Identification of PEX7 as the second gene involved in Refsum disease. Am J Hum Genet 72:471-477
82. Van Maldergem L, Moser AB, Vincent MF, et al. 2005. Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type. J Inherit Metab Dis 28:593-600
83. Walter C, Gootjes J, Mooijer PA, et al. 2001. Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels. Am J Hum Genet 69:35-48
84. Wanders RJ, Waterham HR. 2006. Peroxisomal disorders: the single peroxisomal enzyme deficiencies. Biochim Biophys Acta 1763:1707-1720
85. Wanders RJ, Waterham HR. 2006. Biochemistry of mammalian peroxisomes revisited. Annu Rev Biochem 75:295-332
86. Waterham HR, Ebberink MS, Koster J, et al. 2011. A novel human peroxisome biogenesis disorder affecting peroxisome division. Presented at the 12th International Congress of Human Genetics/61st Annual Meeting of The American Society of Human Genetics. Montreal, Canada
87. Waterham HR, Koster J, van Roermund CW, et al. 2007. A lethal defect of mitochondrial and peroxisomal fission. N Engl J Med 356:1736-1741
88. Wei H, Kemp S, McGuinness MC, et al. 2000. Pharmacological induction of peroxisomes in peroxisome biogenesis disorders. Ann Neurol 47:286-296
89. White AL, Modaff P, Holland-Morris F, et al. 2003. Natural history of rhizomelic chondrodysplasia punctata. Am J Med Genet A 118A:332-342
90. Wiese S, Gronemeyer T, Brites P, et al. 2012. Comparative profiling of the peroxisomal proteome of wild type and pex7 knockout mice by quantitative mass spectrometry. Int J Mass Spectrometry 312:30-40
91. Wiese S, Gronemeyer T, Ofman R, et al. 2007. Proteomics characterization of mouse kidney peroxisomes by tandem mass spectrometry and protein correlation profiling. Mol Cell Proteomics 6:2045-2057
92. Wightman PJ, Santer R, Ribes A, et al. 2003. MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency. Hum Mutat 22:288-300
93. Wood PL, Khan MA, Smith T, et al. 2011. In vitro and in vivo plasmalogen replacement evaluations in rhizomelic chrondrodysplasia punctata and Pelizaeus-Merzbacher disease using PPI-1011, an ether lipid plasmalogen precursor. Lipids Health Dis 10:182
94. Wood PL, Smith T, Lane N, et al. 2011. Oral bioavailability of the ether lipid plasmalogen precursor, PPI-1011, in the rabbit: a new therapeutic strategy for Alzheimer's disease. Lipids Health Dis 10:227
95. Yik WY, Steinberg SJ, Moser AB, et al. 2009. Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. Hum Mutat 30:E467-E480
96. Zeharia A, Ebberink MS, Wanders RJ, et al. 2007. A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C. J Hum Genet 52:599-606
97. Zellweger H, Maertens P, Superneau D, et al. 1988. History of the cerebrohepatorenal syndrome of Zellweger and other peroxisomal disorders. South Med J 81:357-364
98. Zhang R, Chen L, Jiralerspong S, et al. 2010. Recovery of PEX1-Gly843Asp peroxisome dysfunction by small-molecule compounds. Proc Natl Acad Sci USA 107:5569- 5574