Inherited disorders of fatty alcohol metabolism

Molecular Genetics and Metabolism

Volumn 65, Issue 2, 1998, Pages 63-73

  Rizzo, William B ^a  

^a VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Alkyl dihydroxyacetone phosphate synthase; Fatty alcohol; Fatty aldehyde dehydrogenase; Genetic disease; Peroxisomal disorders; Peroxisome; Peroxisome biogenesis; Plasmalogens; Sjogren Larsson syndrome; Wax esters; Zellweger syndrome

Indexed keywords

DIHYDROXYACETONE PHOSPHATE; FATTY ALCOHOL; SYNTHETASE;

ADRENOLEUKODYSTROPHY; ALCOHOL METABOLISM; CHONDRODYSPLASIA PUNCTATA; ENZYME DEFICIENCY; GENETIC DISORDER; HUMAN; INBORN ERROR OF METABOLISM; MOLECULAR GENETICS; MUTATION; PEROXISOME; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REFSUM DISEASE; REVIEW; SJOEGREN LARSSON SYNDROME; ZELLWEGER SYNDROME;

EID: 0032192355     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1998.2728     Document Type: Article

References (99)

1. 1. Mahadevan V. Fatty alcohols: Chemistry and metabolism. Prog Chem Fats Other Lipids 15:255-299, 1978.
2. 2. Hanahan DJ. Ether-linked lipids: Chemistry and methods of measurement. In Ether lipids. Chemistry and Biology (Snyder F, Ed.). New York: Academic Press, pp. 25-50, 1972.
3. 3. Malins DC, Wekell JC. The lipid biochemistry of marine organisms. Prog Chem Fats Other Lipids 10:337-363, 1969.
4. 4. Eglinton G, Hamilton RJ. Leaf epicuticular waxes. Science 156:1322-1335, 1967.
5. 5. Kolattukudy PE. Plant waxes. Lipids 5:259-275, 1970.
6. 6. Blank ML, Snyder F. Long chain fatty alcohols in normal and neoplastic tissues. Lipids 5:337-341, 1970.
7. 7. Takahashi T, Schmid HHO. Long-chain alcohols in mammalian tissues. Chem Phys Lipids 4:243-246, 1970.
8. 8. Natarajan V, Schmid HHO. 1-Docosanol and other long chain primary alcohols in developing rat brain. Lipids 12: 128-130, 1977.
9. 9. Nicolaides N. The monoene and other wax alcohols of human skin surface lipid and their relation to the fatty acids of this lipid. Lipids 2:266-275, 1967.
10. 10. Oku H, Shudo J, Mimura K, Haratake A, Nagata J, Chinen I. 1-O-Alkyl-2,3-diacylglycerols in the skin surface lipids of the hairless mouse. Lipids 30:169-172, 1995.
11. 11. O'Brien JS, Sampson EL. Lipid composition of the normal human brain: Gray matter, white matter, and myelin. J Lipid Res 6:537-544, 1965.
12. 12. Hanahan DJ. Platelet activating factor: A biologically active phosphoglyceride. Annu Rev Biochem 55:483-509, 1986.
13. 13. Zoeller RA, Morsand OH, Raetz CRH. A possible role for plasmalogens in protecting animal cells against photosensitized killing. J Biol Chem 263:11590-11596, 1988.
14. 14. Lohner K. Is the high propensity of ethanolamine plasmalogens to form non-lamellar lipid structures manifested in the properties of biomembranes? Chem Phys Lipids 81:167-184, 1996.
15. 15. Pringle MJ, Brown KB, Miller KW. Can the lipid theories of anesthesia account for the cutoff in anesthetic potency in homologous series of alcohols? Mol Pharmacol 19:49-55, 1981.
16. 16. Snipes W, Person S, Keller G, Taylor W, Keith A. Inactivation of lipid-containing viruses by long-chain alcohols. Antimicrob Agents Chemother 11:98-104, 1977.
17. 17. Sands J, Auperin D, Snipes W. Extreme sensitivity of envoloped viruses, including herpes simplex, to long-chain unsaturated monoglycerides and alcohols. Antimicrob Agents Chemother 15:67-73, 1979.
18. 18. Kubo I, Muroi H, Kubo A. Structural functions of antimicrobial long-chain alcohols and phenols. Bioorg Med Chem 3:873-880, 1995.
19. 19. Ferreira GC, Patton JS. Inhibition of lipolysis by hydrocarbons and fatty alcohols. J Lipid Res 31:889-897, 1990.
20. 20. Stetten D, Schoenheimer R. The biological relations of the higher aliphatic alcohols to fatty acids. J Biol Chem 133: 347-357, 1940.
21. 21. Blomstrand R, Rumpf JA. The conversion of [1-14C] cetyl alcohol into palmitic acid in the intestinal mucosa of the rat. Acta Physiol Scand 32:374-383, 1954.
22. 22. Snyder F, Malone B. Enzymic interconversion of fatty alcohols and fatty acids. Biochem Biophys Res Commun 41: 1382-1387, 1970.
23. 23. Baxter JH: Absorption of chlorophyll phytol in normal man and in patients with Refsum's disease. J Lipid Res 9:636-641, 1968.
24. 24. Steinberg D. Refsum disease. In. The Metabolic and Molecular Bases of Inherited Disease (Scriver CR, Beaudet AL, Sly WAS, Valle D, Eds.). New York: McGraw-Hill, Vol 2, pp 2351-2369, 1995.
25. 25. Rizzo WB, Dammann AL, Craft DA, Phillips MW. Fatty alcohol metabolism in cultured human fibroblasts. Evidence for a fatty alcohol cycle. J Biol Chem 262:17412-17419, 1987.
26. 26. Riendeau D, Meighen E. Enzymatic reduction of fatty acids and acyl-CoAs to long chain aldehydes and alcohols. Experientia 41:707-713, 1985.
27. 27. Bishop JE, Hajra AK. Mechanism and specificity of formation of long chain alcohols by developing rat brain. J Biol Chem 256:9542-9550, 1981.
28. 28. Bishop JE, Hajra AK. Specificity of reduction of fatty acids to long chain alcohols by rat brain microsomes. J Neurochem 30:643-647, 1978.
29. 29. Ichihara K, Ishihara K, Kusunose E, Kusunose M. Some properties of a hexadecane hydroxylation system in rabbit intestinal mucosa microsomes. J Biochem 89:1821-1827, 1981.
30. 30. Wykle RL, Malone B, Snyder F. Acyl-CoA reductase specificity and synthesis of wax esters in mouse preputial gland tumors. J Lipid Res 20:890-896, 1979.
31. 31. Kolattukudy PE, Rogers L. Acyl-CoA reductase and acyl-CoA:fatty alcohol acyl transferase in the microsomal preparation from the bovine meibomian gland. J Lipid Res 27: 404-411, 1986.
32. 32. Furuyoshi S, Shi Y-Q, Rando RP. Acyl group transfer from the sn-1 position of phospholipids in the biosynthesis of n-dodecyl palmitate. Biochemistry 32:5425-5430, 1993.
33. 33. van den Bosch H, de Vet ECJM. Alkyl-dihydroxyacetonephosphate synthase. Biochim Biophys Acta 1348:35-44, 1997.
34. 34. Lee T-C. Characterization of fatty alcohol: NAD oxidoreductase from rat liver. J Biol Chem 254:2892-2896, 1979.
35. 35. Ichihara K, Kusunose E, Noda Y, Kusunose M. Some properties of the fatty alcohol oxidation system and reconstitution of microsomal oxidation activity in intestinal mucosa. Biochim Biophys Acta 878:412-418, 1986.
36. + oxidoreductase in cultured fibroblasts. J Clin Invest 88:1643-1648, 1991.
37. 37. Nakayasu H, Mihara K, Sato R. Purification and properties of a membrane-bound aldehyde dehydrogenase from rat liver microsomes. Biochem Biophys Res Commun 83:697-703, 1978.
38. 38. Kelson TL, Secor McVoy JR, Rizzo WB. Human liver fatty aldehyde dehydrogenase: Microsomal localization, purification, and biochemical characterization. Biochim Biophys Acta 1335:99-110, 1997.
39. 39. Teitz A, Lindberg M, Kennedy EP. A new pteridine-requiring enzyme system for the oxidation of glyceryl ethers. J Biol Chem 239:4081-4090, 1964.
40. 40. Soodsma JF, Piantadosi C, Snyder F. Partial characterization of the alkylglycerol cleavage enzyme system of rat liver. J Biol Chem 247:3923-3929, 1972.
41. 41. Keenan RW, Maxam A. The in vitro degradation of dihydrosphingosine. Biochim Biophys Acta 176:348-356, 1969.
42. 42. Stoffel W, LeKim D, Sticht G. Distribution and properties of dihydrosphingosine-1-phosphate aldolase (sphinganine-1-phosphate alkanal-lyase). Hoppe-Seyler's Z Physiol Chem 350:1233-1241, 1969.
43. 43. Croes K, Casteels M, Asselberghs S, Herdewijn P, Mannaerts GP, Van Veldhoven PP. Formation of a 2-methyl-branched fatty aldehyde during peroxisomal α-oxidation. FEBS Lett 412:643-645, 1997.
44. 44. Verhoeven NM, Schor DSM, ten Brink HJ, Wanders RJA, Jakobs C. 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, 1997.
45. 45. Welsh CJ, Robinson M, Warne TR, Pierce JH, Yeh GC, Phang JM. Accumulation of fatty alcohol in MCF-7 breast cancer cells. Arch Biochem Biophys 315:41-47, 1994.
46. 46. Lee T-C, Fitzgerald V, Stephens N, Snyder F. Activities of enzymes involved in the metabolism of ether-linked lipids in normal and neoplastic tissues of rat. Biochim Biophys Acta 619:420-423, 1980.
47. 47. Moore C, Snyder F. Regulation of acyl coenzyme A reductase by a heat-stable cytosolic protein during preputial gland development. Arch Biochem Biophys 214:500-504, 1982.
48. 48. Cabot MC, Snyder F. Manipulation of alkylglycerolipid levels in cultured cells. Fatty alcohol versus alkylglycerol supplements. Biochim Biophys Acta 617:410-418, 1980.
49. 49. Krisans SK, Mortensen RM, Lazarow PB. Acyl-CoA synthetase in rat liver peroxisomes. J Biol Chem 255:9599-9607, 1980.
50. 50. Hajra AK, Bishop JE. Glycerolipid biosynthesis in peroxisomes via the acyl dihydroxyacetone phosphate pathway. Ann NY Acad Sci 386:170-181, 1982.
51. 51. Burdett K, Larkins LK, Das AK, Hajra AK. Peroxisomal localization of acyl-coenzyme A reductase (long chain alcohol forming) in guinea pig intestine mucosal cells. J Biol Chem 266:12201-12206, 1991.
52. + oxidoreductase is present in rat liver peroxisomes. J Biol Chem 270:37-40, 1995.
53. 53. Hayashi H, Hara M. 1-Alkenyl group of ethanolamine plasmalogen derives mainly from de novo-synthesized fatty alcohol within peroxisomes, but not extraperoxisomal fatty alcohol or fatty acid. J Biochem 121:978-983, 1997.
54. 54. Hayashi H, Sato A. Fatty alcohol synthesis accompanied with chain elongation in liver peroxisomes. Biochim Biophys Acta 1346:38-44, 1997.
55. 55. Hue L. Futile cycles and regulation of metabolism. In Metabolic Compartmentation (Sies H, ed.). London: Academic Press, pp 71-97, 1982.
56. 56. Heymans HSA, Schutgens RBH, Tan R, van den Bosch H, Borst P. Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome). Nature 306:69-70, 1983.
57. 57. Heymans HSA, van den Bosch H, Schutgens RBH, Tegelaers WHH, Walther J-U, Muller-Hocker J, Borst P. Deficiency of plasmalogens in the cerebro-hepato-renal (Zellweger) syndrome. Eur J Pediatr 142:10-15, 1984.
58. 58. Schutgens RBH, Romeyn GJ, Wanders RJA, van den Bosch H, Schrakamp G, Heymans HSA. Deficiency of acyl-CoA: dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome. Biochem Biophys Res Commun 120:179-184, 1984.
59. 59. Datta NS, Wilson GN, Hajra AK. Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome. New Engl J Med 311:1080-1083, 1984.
60. 60. Sjögren T, Larsson T. Oligophrenia in combination with congenital ichthyosis and spastic disorders. Acta Psychiatr Neural Scand 32(Suppl 113):1-113, 1957.
61. 61. Rizzo WB. Sjögren-Larsson syndrome. Sem Dermatol 12: 210-218, 1993.
62. 62. Rizzo WB, Dammann AL, Craft DA. Sjögren-Larsson syndrome: Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol:nicotinamide adenine dinucleotide oxidoreductase activity. J Clin Invest 81:738-744, 1988.
63. 63. Rizzo WB, Dammann AL, Craft DA, Black SH, Henderson Tilton A, Africk D, Chaves-Carballo E, Holmgren G, Jagell S. Sjögren-Larsson syndrome: inherited defect in the fatty alcohol cycle. J Pediatr 115:228-234, 1989.
64. 64. Judge MR, Lake BD, Smith VV, Besley GTN, Harper JI. Depletion of alcohol (hexanol) dehydrogenase activity in the epidermis and jejunal mucosa in Sjögren-Larsson syndrome. J Invest Dermatol 95:632-634, 1990.
65. 65. Kelson TL, Craft DA, Rizzo WB. Carrier detection for Sjögren-Larsson syndrome. J Inherit Metab Dis 15:105-111, 1992.
66. 66. Rizzo WB, Craft DA, Kelson TL, Bonnefont J-P, Saudubray J-M, Schulman JD, Black SH, Tabsh K, Di Rocco M, McKinlay Gardner RJ. Prenatal diagnosis of Sjögren-Larsson syndrome using enzymatic methods. Prenat Diagn 14:577-581, 1994.
67. 67. Sillen A, Holmgren G, Wadelius C. First prenatal diagnosis by mutation analysis in a family with Sjögren-Larsson syndrome. Prenat Diagn 17:1147-1149, 1997.
68. 68. Rogers GR, Markova NG, De Laurenzi V, Rizzo WB, Compton JG. Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH). Genomics 39: 127-135, 1997.
69. 69. Chang C, Yoshida A. Human fatty aldehyde dehydrogenase gene (ALDH10): organization and tissue-dependent expression. Genomics 40:80-85, 1997.
70. 70. Masaki R, Yamamoto A, Tashiro Y. Microsomal aldehyde dehydrogenase is localized to the endoplasmic reticulum via its carboxyl-terminal 35 amino acids. J Cell Biol 126:1407-1420, 1994.
71. 71. De Laurenzi V, Rogers GR, Hamrock DJ, Marekov LN, Steinert PM, Compton JG, Markova N, Rizzo WB. Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nature Genet 12:52-57, 1996.
72. 72. Tsukamoto N, Chang C, Yoshida A. Mutations associated with Sjögren-Larsson syndrome. Ann Hum Genet 61:235-242, 1997.
73. 73. De Laurenzi V, Rogers GR, Tarcsa E, Carney G, Marekov L, Bale SJ, Compton JG, Markova N, Steinert PM, Rizzo WB. Sjögren-Larsson syndrome is caused by a common mutation in northern European and Swedish patients. J Invest Dermatol 109:79-83, 1997.
74. 74. Sillen A, Jagell S, Wadelius C. A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden. Hum Genet 100:201-203, 1997.
75. 75. Rizzo WB, Carney G, De Laurenzi V. A common deletion mutation in European patients with Sjögren-Larsson syndrome. Biochem Mol Med 62:178-181, 1997.
76. 76. James PF, Zoeller RA. Isolation of animal cell mutants defective in long-chain fatty aldehyde dehydrogenase. Sensitivity to fatty aldehydes and Schiff's base modification of phospholipids: implications for Sjögren-Larsson syndrome. J Biol Chem 272:23532-23539, 1997.
77. 77. Lazarow PB, Moser HW. Disorders of peroxisome biogenesis. In The Metabolic and Molecular Bases of Inherited Disease (Scriver CR, Beaudet AL, Sly WAS, Valle D, Eds.). New York: McGraw-Hill, Vol 2, pp 2287-2324, 1995.
78. 78. Heymans HSA, Oorthuys JWE, Nelck G, Wanders RJA, Schutgens RBH. Rhizomelic chondrodysplasia punctata: another peroxisomal disorder. New Engl J med 313:187-188, 1985.
79. 79. Heymans HSA, Oorthuys JWE, Nelck G, Wanders RJA, Dingemans KP, Schutgens RBH. Peroxisomal abnormalities in rhizomelic chondrodysplasia punctata. J Inherit Metab Dis 9:329-331, 1986.
80. 80. Bravermann N, Steel G, Obie C, Moser A, Moser H, Gould SJ, Valle D. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nature Genet 15:369-376, 1997.
81. 81. Motley AM, Hettema EH, Hogenhout EM, Brites P, ten Asbroek ALMA, Wijburg FA, Baas F, Heijmans HS, Tabak HF, Wanders RJA, Distel B. Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. Nature Genet 15:377-380, 1997.
82. 82. Purdue PE, Zhang JW, Skoneczny M, Lazarow PB. Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. Nature Genet 15:381-384, 1997.
83. 83. de Vet ECJM, van den Broek BTE, van den Bosch H. Nucleotide sequence of human alkyl-dihydroxyacetonephosphate synthase cDNA reveals the presence of a peroxisomal targeting signal 2. Biochim Biophys Acta 1346:25-29, 1997.
84. 84. Mihalik SJ, Morrell JC, Kim D, Sacksteder KA, Watkins PA, Gould SJ. Identification of PAXH, a Refsum disease gene. Nature Genet 17:185-189, 1997.
85. 85. Jansen GA, Ofman R, Ferdinandusse S, Ijlst L, Muijsers AO, Skjeldal OH, Stokke O, Jakobs C, Besley GTN, Wraith JE, Wanders RJA. Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nature Genet 17:190-193, 1997.
86. 86. Hoefler G, Hoefler S, Watkins PA, Chen WW, Moser A, Baldwin V, McGillivary B, Charrow J, Friedman JM, Rutledge L, Hashimoto T, Moser HW. Biochemical abnormalities in rhizomelic chondrodysplasia punctata. J Pediatr 112: 726-733, 1988.
87. 87. Poulos A, Sheffield L, Sharp P, Sherwood G, Johnson D, Beckman K, Fellenberg AJ, Wraith JE, Chow CW, Singh H. Rhizomelic chondrodysplasia punctata: Clinical, pathologic, and biochemical findings in two patients. J Pediatr 113:685-690, 1988.
88. 88. Rizzo WB, Craft DA, Judd LL, Moser HW, Moser AB. Fatty alcohol accumulation in the autosomal recessive form of rhizomelic chondrodysplasia punctata. Biochem Med Metab Biol 50:93-102, 1993.
89. 89. Wanders RJA, Dekker C, Hovarth VAP, Schutgens RBH, Tager JM, Van Laer P, Lecoutere D. Human alkyldihydroxyacetonephosphate synthase deficiency: A new peroxisomal disorder. J Inherit Metab Dis 17:315-318, 1994.
90. 90. Powers JM, Moser HW. Peroxisomal disorders: Genotype, phenotype, major neuropathologic lesions, and pathogenesis. Brain Pathol 8:101-120, 1998.
91. 91. Subramani S. PEX genes on the rise. Nature Genet 15:331-333, 1997.
92. 92. Reuber BE, Germain-Lee E, Collins CS, Morrell JC, Ameritunga R, Moser HW, Valle D, Gould SJ. Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. Nature Genet 17:445-448, 1997.
93. 93. Portsteffen H, Beyer A, Becker E, Epplen C, Pawlak A, Kunau W-H, Dodt G. Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. Nature Genet 17:449-452, 1997.
94. 94. Santos MJ, Imanaka T, Shio H, Small GM, Lazarow PB. Peroxisomal membrane ghosts in Zellweger syndrome -aberrant organelle assembly. Science 239:1536-1538, 1988.
95. 95. Wanders RJA, Schutgens RBH, Barth PG, Tager JM, van den Bosch H. Postnatal diagnosis of peroxisomal disorders: a biochemical approach. Biochimie 75:269-279, 1993.
96. 96. Moser A, Rasmussen M, Naidu S, Watkins PA, McGuinness M, Hajra AK, Chen G, Raymond G, Liu A, Gordon D, Garnaas K, Walton DS, Skjeldal OH, Guggenheim MA, Jackson LG, Elias ER, Moser HW. Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. J Pediatr 127:13-22, 1995.
97. 97. Elder RL. Final report on the safety assessment of stearyl alcohol, oleyl alcohol, and octyl dodecanol. J Am Coll Toxicol 4:1-29, 1985.
98. 98. Das AK, Holmes RD, Wilson GN, Hajra AK. Dietary ether lipid incorporation into tissue plasmalogens of humans and rodents. Lipids 27:401-405, 1992.
99. 99. Maaswinkel-Mooij PD, Brouwer OF, Rizzo WB. Unsuccessful dietary treatment of Sjögren-Larsson syndrome. J Pediatr 124:748-750, 1994.