Molecular Basis of Refsum Disease: Sequence Variations in Phytanoyl-CoA Hydroxylase (PHYH) and the PTS2 Receptor (PEX7)

Human Mutation

Volumn 23, Issue 3, 2004, Pages 209-218

  Jansen, Gerbert A ^a   Waterham, Hans R ^a   Wanders, Ronald J A ^a,b  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Peroxisome; PEX7; PHAX; PHYH; RD; Refsum disease

Indexed keywords

2 OXOGLUTARIC ACID; BIOCHEMICAL MARKER; COMPLEMENTARY DNA; OXYGENASE; PHYH PROTEIN; PHYTANIC ACID; PHYTANOYL COENZYME A HYDROXYLASE; PROTEIN; UNCLASSIFIED DRUG;

ADRENOLEUKODYSTROPHY; ANIMAL MODEL; CEREBELLAR ATAXIA; CHONDRODYSPLASIA PUNCTATA; FATTY ACID METABOLISM; FATTY ACID OXIDATION; GENE; HUMAN; INFANT; INFANT DISEASE; LIPID METABOLISM; METABOLIC DISORDER; MOUSE; NEUROLOGIC DISEASE; NEWBORN; NOMENCLATURE; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PERIPHERAL NEUROPATHY; PEROXISOME; PEX7 GENE; PHYH GENE; PRIORITY JOURNAL; REFSUM DISEASE; RETINITIS PIGMENTOSA; REVIEW; SYMPTOMATOLOGY; ZELLWEGER SYNDROME;

ANIMALS; BASE SEQUENCE; GENE DUPLICATION; HUMANS; MIXED FUNCTION OXYGENASES; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PHENOTYPE; RECEPTORS, CYTOPLASMIC AND NUCLEAR; REFSUM DISEASE; SEQUENCE DELETION; VARIATION (GENETICS);

EID: 1542724509     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10315     Document Type: Review

References (70)

1. Baumgartner MR, Jansen GA, Verhoeven NM, Mooijer PAW, Jakobs C, Roels F, Espeel M, Fourmaintraux A, Bellet H, Wanders RJA, Saudubray JM. 2000. Atypical Refsum disease with pipecolic acidemia and abnormal catalase distribution. Ann Neurol 47:109-113.
2. Beard ME, Moser AB, Sapirstein V, Holtzman E. 1986. Peroxisomes in infantile phytanic acid storage disease: a cytochemical study of skin fibroblasts. J Inherit Metab Dis 9:321-334.
3. Braverman N, Steel G, Obie C, Moser AB, Moser HW, Gould SJ, Valle D. 1997. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nat Genet 15:369-376.
4. Braverman N, Chen L, Lin P, Obie C, Steel G, Douglas P, Chakraborty PK, Clarke JT, Boneh A, Moser A, Moser H, Valle D. 2002. Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. Hum Mutat 20:284-297.
5. Budden SS, Kennaway NG, Buist NR, Poulos A, Weleber RG. 1986. Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children. J Pediatr 108:33-39.
6. Chambraud B, Radanyi C, Camonis JH, Rajkowski K, Schumacher M, Baulieu EE. 1999. Immunophilins, Refsum disease, and lupus nephritis: the peroxisomal enzyme phytanoyl-CoA α-hydroxylase is a new FKBP-associated protein. Proc Natl Acad Sci USA 96:2104-2109.
7. Chen C, Wang Q, Fang X, Xu Q, Chi C, Gu J. 2001. Roles of phytanoyl-CoA alpha-hydroxylase in mediating the expression of human coagulation factor VIII. J Biol Chem 276:46340-46346.
8. 2 cofactor requirements, subcellular localization and formation of a 2-hydroxy-3-methylacyl-CoA intermediate. Eur J Biochem 240:674-683.
9. Croes K, Casteels M, Asselberghs S, Herdewijn P, Mannaerts GP, Van Veldhoven PP. 1997a. Formation of a 2-methyl-branched fatty aldehyde during peroxisomal α-oxidation. FEBS Lett 412:643-645.
10. Croes K, Van Veldhoven PP, Mannaerts GP, Casteels M. 1997b. Production of formyl-CoA during peroxisomal α-oxidation of 3-methyl-branched fatty acids. FEBS Lett 407:197-200.
11. Foulon V, Antonenkov VD, Croes K, Waelkens E, Mannaerts GP, Van Veldhoven PP, Casteels M. 1999. Purification, molecular cloning, and expression of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal thiamine pyrophosphate-dependent enzyme that catalyzes the carbon-carbon bond cleavage during α-oxidation of 3-methyl-branched fatty acids. Proc Natl Acad Sci USA 96:10039-10044.
12. Gibberd FB, Billimoria JD, Page NG, Retsas S. 1979. Heredopathia atactica polyneuritiformis (Refsum's disease) treated by diet and plasma-exchange. Lancet 1:575-578.
13. Gould SJ, Raymond GV, Valle D. 2001. The peroxisome biogenesis disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill. p 3181-3217.
14. Gutknecht J. 1987. Proton/hydroxide conductance through phospholipid bilayer membranes: effects of phytanic acid. Biochim Biophys Acta 898:97-108.
15. Gutsche HU, Siegmund JB, Hoppmann I. 1996. Lipapheresis: an immunoglobulin-sparing treatment for Refsum's disease. Acta Neurol Scand 94:190-193.
16. Hansen E, Bachen NI, Flage T. 1979. Refsum's disease. Eye manifestations in a patient treated with low phytol low phytanic acid diet. Acta Ophthalmol (Copenh) 57:899-913.
17. Harari D, Gibberd FB, Dick JP, Sidey MC. 1991. Plasma exchange in the treatment of Refsum's disease (heredopathia atactica polyneuritiformis). J Neurol Neurosurg Psychiatry 54:614-617.
18. Hungerbuhler JP, Meier C, Rousselle L, Quadri P, Bogousslavsky J. 1985. Refsum's disease: management by diet and plasmapheresis. Eur Neurol 24:153-159.
19. Janko K, Benz R. 1977. Properties of lipid bilayer membranes made from lipids containing phytanic acid. Biochim Biophys Acta 470:8-16.
20. Jansen GA, Mihalik SJ, Watkins PA, Moser HW, Jakobs C, Denis S, Wanders RJA. 1996. Phytanoyl-CoA hydroxylase is present in human liver, located in peroxisomes, and deficient in Zellweger syndrome: direct, unequivocal evidence for the new, revised pathway of phytanic acid α-oxidation in humans. Biochem Biophys Res Commun 229:205-210.
21. Jansen GA, Ofman R, Ferdinandusse S, IJlst L, Muijsers AO, Skjeldal OH, Stokke O, Jakobs C, Besley GTN, Wraith JE, Wanders RJA. 1997a. Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nat Genet 17:190-193.
22. Jansen GA, Wanders RJA, Watkins PA, Mihalik SJ. 1997b. Phytanoyl-Coenzyme A hydroxylase deficiency: the enzyme defect in Refsum's disease. N Engl J Med 337:133-134.
23. Jansen GA, Ferdinandusse S, Verhoeven NM, Jakobs C, Tranchant C, Aubourg P, Wanders RJA. 1998a. The classical Refsum disease (phytanoyl-CoA hydroxylase) gene is mutated in combined phytanic/pipecolic acidaemia. [Abstract]. J Inherit Metab Dis 21(Suppl 2):109.
24. Jansen GA, Mihalik SJ, Watkins PA, Jakobs C, Moser HW, Wanders RJA. 1998b. Characterization of phytanoyl-coenzyme A hydroxylase in human liver and activity measurements in patients with peroxisomal disorders. Clin Chim Acta 271:203-211.
25. Jansen GA, Verhoeven NM, Denis S, Romeyn GJ, Jakobs C, ten Brink HJ, Wanders RJA. 1999. Phytanic acid α-oxidation: identification of 2-hydroxyphytanoyl-CoA lyase in rat liver and its localisation in peroxisomes. Biochim Biophys Acta 1440:176-182.
26. Jansen GA, Hogenhout EM, Ferdinandusse S, Waterham HR, Ofman R, Jakobs C, Skjeldal OH, Wanders RJA. 2000. Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease. Hum Mol Genet 9:1195-1200.
27. Jansen GA, van den Brink DM, Ofman R, Draghici O, Dacremont G, Wanders RJA. 2001. Identification of pristanal dehydrogenase activity in peroxisomes: conclusive evidence that the complete phytanic acid α-oxidation pathway is localized in peroxisomes. Biochem Biophys Res Commun 283:674-679.
28. Klenk E, Kahlke W. 1963. Über das Vorkommen der 3.7.11.15-Tetramethyl-hexadecansäure (Phytansäure) in den Cholesterinestern und anderen Lipoidfraktionen der Organe bei einem Krankheitsfall unbekanter Genese (Verdacht auf Heredopathia atactica polyneuritiformis [Refsum-Syndrom]). Hoppe Seylers Z Physiol Chem 333:133-139. [Ger]
29. Koh JT, Lee ZH, Ahn KY, Kim JK, Bae CS, Kim H, Kee HJ, Kim KK. 2001. Characterization of mouse brain-specific angiogenesis inhibitor 1 (BAI1) and phytanoyl-CoA alpha-hydroxylase-associated protein 1, a novel BAI1-binding protein. Brain Res Mol Brain Res 87:223-237.
30. Lee ZH, Kim H, Ahn KY, Seo KH, Kim JK, Bae CS, Kim KK. 2000. Identification of a brain specific protein that associates with a Refsum disease gene product, phytanoyl-CoA alpha-hydroxylase. Brain Res Mol Brain Res 75:237-247.
31. Manson JI, Pollard AC, Poulos A, Carter RF. 1985. Infantile Refsum's disease: a peroxisomal storage disorder? Clin Exp Neurol 21:283-287.
32. Mihalik SJ, Rainville AM, Watkins PA. 1995. Phytanic acid α-oxidation in rat liver peroxisomes. Production of α -hydroxyphytanoyl-CoA and formate is enhanced by dioxygenase cofactors. Eur J Biochem 232:545-551.
33. Mihalik SJ, Morrell JC, Kim D, Sacksteder KA, Watkins PA, Gould SJ. 1997. Identification of PAHX, a Refsum disease gene. Nat Genet 17:185-189.
34. 14C in the rat. J Lipid Res 7:692-697.
35. Molzer B, Bernheimer H, Barolin GS, Hofinger E, Lenz H. 1979. Di-, mono- and nonphytanyl triglycerides in the serum: a sensitive parameter of the phytanic acid accumulation in Refsum's disease. Clin Chim Acta 91:133-140.
36. Motley AM, Hettema EH, Hogenhout EM, Brites P, Tenasbroek ALMA, Wijburg FA, Baas F, Heymans HSA, Tabak HF, Wanders RJA, Distel B. 1997. Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. Nat Genet 15:377-380.
37. Motley AM, Brites P, Gerez L, Hogenhout E, Haasjes J, Benne R, Tabak HF, Wanders RJA, Waterham HR. 2002. Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1. Am J Hum Genet 70:612-624.
38. Mukherji M, Chien W, Kershaw NJ, Clifton IJ, Schofield CJ, Wierzbicki AS, Lloyd MD. 2001. Structure-function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum's disease. Hum Mol Genet 10:1971-1982.
39. Nadal N, Rolland MO, Tranchant C, Reutenauer L, Gyapay G, Warter JM, Mandel JL, Koenig M. 1995. Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family. Hum Mol Genet 4:1963-1966.
40. Ogier H, Roels F, Cornelis A, Poll-The BT, Scotto JM, Odievre M, Sandubray JM. 1985. Absence of hepatic peroxisomes in a case of infantile Refsum's disease. Scand J Clin Lab Invest 8:767-768.
41. Plant GR, Hansell DM, Gibberd FB, Sidey MC. 1990. Skeletal abnormalities in Refsum's disease (heredopathia atactica polyneuritiformis). Br J Radiol 751:537-541.
42. Poll-The BT, Saudubray JM, Ogier H, Schutgens RBH, Wanders RJA, Schrakamp G, van den Bosch H, Trijbels JM, Poulos A, Moser HW, Van Eldere J, Eyssen HJ. 1986. Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction. J Inherit Metab Dis 9:169-174.
43. Poulos A, Sharp P. 1984a. Plasma and skin fibroblast C26 fatty acids in infantile Refsum's disease. Neurology 34:1606-1609.
44. Poulos A, Sharp P, Whiting M. 1984b. Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome? Clin Genet 26:579-586.
45. Poulos A, Whiting MJ. 1985. Identification of 3α,7α,12α -trihydroxy-5β-cholestan-26-oic acid, an intermediate in cholic acid synthesis, in the plasma of patients with infantile Refsum's disease. J Inherit Metab Dis 1:13-17.
46. Purdue PE, Zhang JW, Skoneczny M, Lazarow PB. 1997. Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. Nat Genet 15:381-384.
47. Purdue PE, Lazarow PB. 2001. Peroxisome biogenesis. Annu Rev Cell Dev Biol 17:701-752.
48. Refsum S. 1946. Heredopathia atactica polyneuritiformis. Acta Psychiatr Neurol Suppl. 38:1-303.
49. Reynolds DJ, Marks R, Davies MG, Dykes PJ. 1978. The fatty acid composition of skin and plasma lipids in Refsum's disease. Clin Chim Acta 2:171-177.
50. Roels F, Cornelis A, Poll-The BT, Aubourg P, Ogier H, Scotto J, Saudubray JM. 1986. Hepatic peroxisomes are deficient in infantile refsum disease: a cytochemical study of 4 cases. Am J Med Genet 2:257-271.
51. Schönfeld P, Struy H. 1999. Refsum disease diagnostic marker phytanic acid alters the physical state of membrane proteins of liver mitochondria. FEBS Lett 457:179-183.
52. Scotto JM, Hadchouel M, Odievre M, Laudat MH, Saudubray JM, Dulac O, Beucler I, Beaune P. 1982. Infantile phytanic acid storage disease, a possible variant of Refsum's disease: three cases, including ultrastructural studies of the liver. J Inherit Metab Dis 5:83-90.
53. Siegmund JB, Meier H, Hoppmann I, Gutsche HU. 1995. Cascade filtration in Refsum's disease. Nephrol Dial Transplant 10: 117-119.
54. Singh H, Usher S, Johnson D, Poulos A. 1990. A comparative study of straight chain and branched chain fatty acid oxidation in skin fibroblasts from patients with peroxisomal disorders. J Lipid Res 31:217-225.
55. 14-phytol to phytanic acid and its oxidation in heredopathia atactica polyneuritiformis. Biochem Biophys Res Commun 19:783-789.
56. Steinberg D, Mize CE, Avigan J, Fales HM, Eldjarn L, Try K, Stokke O, Refsum S. 1967. Studies on the metabolic error in Refsum's disease. J Clin Invest 46:313-322.
57. Steinberg D. 1995. Refsum disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill. p 2351-2369.
58. Steinberg SJ, Wang SJ, Kim DG, Mihalik SJ, Watkins PA. 1999. Human very-long-chain acyl-CoA synthetase: cloning, topography, and relevance to branched-chain fatty acid metabolism. Biochem Biophys Res Commun 257:615-621.
59. Tranchant C, Aubourg P, Mohr M, Rocchiccioli F, Zaenker C, Warter JM. 1993. A new peroxisomal disease with impaired phytanic and pipecolic acid oxidation. Neurology 43:2044-2048.
60. van den Brink DM, Brites P, Haasjes J, Wierzbicki AS, Mitchell J, Lambert-Hamill M, de Belleroche J, Jansen GA, Waterham HR, Wanders RJA. 2003. Identification of PEX7 as the second gene involved in Refsum Disease. Am J Hum Genet 72: 471-477.
61. Verhoeven NM, Schor DSM, ten Brink HJ, Wanders RJA, Jakobs C. 1997. Resolution of the phytanic acid α-oxidation pathway-identification of pristanal as product of the decarboxylation of 2-hydroxyphytanoyl-CoA. Biochem Biophys Res Commun 237:33-36.
62. Wanders RJA, Heymans HSA, Schutgens RBH, Poll-The BT, Saudubray JM, Tager JM, Schrakamp G, van den Bosch H. 1988. Peroxisomal functions in classical Refsum's disease: comparison with the infantile form of Refsum's disease. J Neurol Sci 84: 147-155.
63. Wanders RJA, Jakobs C, Skjeldal OH. 2001. Refsum Disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill. p 3303-3321.
64. Watkins PA, Howard AE, Mihalik SJ. 1994. Phytanic acid must be activated to phytanoyl-CoA prior to its α-oxidation in rat liver peroxisomes. Biochim Biophys Acta 1214:288-294.
65. Weleber RG, Tongue AC, Kennaway NG, Budden SS, Buist NR. 1984. Ophthalmic manifestations of infantile phytanic acid storage disease. Arch Ophthalmol 102:1317-1321.
66. Wierzbicki AS, Hardman TC, Lumb P, Sankaralingam A, Morrish Z, Patel F, Sidey MC, Gibberd FB. 1998. Influence of plasma phytanic acid levels in Refsum's disease on the behaviour of the erythrocyte membrane sodium-lithium countertransporter. Eur J Clin Invest 28:334-338.
67. Wierzbicki AS, Mitchell J, Lambert-Hamill M, Sidey M, Feher MD, de Belleroche J, Gibberd FB. 2000. Identification of a second locus for Refsum's disease at chromosome 6p22-24 (Abstract). J Inherit Metab Dis 23(Suppl 1):259.
68. Wierzbicki AS, Lloyd MD, Schofield CJ, Feher MD, Gibberd FB. 2002. Refsum's disease: a peroxisomal disorder affecting phytanic acid α-oxidation. J Neurochem 80:727-735.
69. Yao JK, Dyck PJ. 1987. Tissue distribution of phytanic acid and its analogues in a kinship with Refsum's disease. Lipids 22:69-75.
70. Young SP, Johnson AW, Muller DP. 2001. Effects of phytanic acid on the vitamin E status, lipid composition and physical properties of retinal cell membranes: implications for adult Refsum disease. Clin Sci (Lond) 101:697-705.