An overview of inborn errors of complex lipid biosynthesis and remodelling

Journal of Inherited Metabolic Disease

Volumn 38, Issue 1, 2015, Pages 3-18

  Lamari, Foudil ^a   Mochel, Fanny ^a,b   Saudubray, Jean Marie ^a,c  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c Sorbonne Universités ^*  (France)

Author keywords

[No Author keywords available]

Indexed keywords

DOLICHOL; FATTY ACID; GLYCOLIPID; ISOPRENOID; PHOSPHOLIPID; PLASMALOGEN; SPHINGOLIPID; VERY LONG CHAIN FATTY ACID; LIPID; WATER;

ARTICLE; BONE; CELL STRUCTURE; CENTRAL NERVOUS SYSTEM; CONGENITAL DISORDER OF GLYCOSYLATION; DISORDERS OF LIPID METABOLISM; EYE; GLUCOSE METABOLISM; HUMAN; IMMUNE SYSTEM; INTRACELLULAR SPACE; LIPOGENESIS; LIVER; MUSCLE; NEXT GENERATION SEQUENCING; OSSIFICATION; PALMITOYLATION; PERIPHERAL NERVOUS SYSTEM; PHENOTYPE; SKIN; BIOSYNTHESIS; CHEMISTRY; ENERGY METABOLISM; EPIDERMIS; GENETICS; HOMEOSTASIS; INBORN ERROR OF METABOLISM; LIPID METABOLISM; METABOLISM; SIGNAL TRANSDUCTION;

ENERGY METABOLISM; EPIDERMIS; FATTY ACIDS; HOMEOSTASIS; HUMANS; LIPID METABOLISM; LIPIDS; METABOLISM, INBORN ERRORS; PHENOTYPE; PHOSPHOLIPIDS; SIGNAL TRANSDUCTION; SPHINGOLIPIDS; WATER;

EID: 84922005483     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-014-9764-x     Document Type: Article

References (107)

1. Agarwal AK, Arioglu E, De Almeida S et al (2002) AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. Nat Genet 31:21–23
2. Aguilera-Méndez A, Álvarez-Delgado C, Hernández-Godinez D (2013) Hepatic diseases related to triglyceride metabolism. Mini Rev Med Chem 13:1691–9
3. Akiyama M (2010) ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts. Hum Mutat 31:1090–6
4. Aldahmesh MA, Mohamed JY, Alkuraya HS et al (2011) Recessive mutations in ELOVL4 causes ichthyosis, intellectual disability, and spastic quadriplegia. Am J Hum Genet 89:745–750
5. Aoyama C, Ohtani A, Ishidate K (2002) Expression and characterization of the active molecular forms of choline/ethanolamine kinase-a and -b in mouse tissues, including carbon tetrachloride-induced liver. Biochem J 363:777–784
6. Baba T, Kashiwagi Y, Arimitsu N et al (2014) Phosphatidic acid (PA)-preferring phospholipase A1 regulates mitochondrial dynamics. J Biol Chem 289:11497–511
7. Balla T (2013) Phosphoinositides: tiny lipids with giant impact on cell regulation. Physiol Rev 93:1019–1137
8. Barth PG, Valianpour F, Bowen VM et al (2004) X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet 126A:349–354
9. Barwick KE, Wright J, Al-Turki S et al (2012) Defective presynaptic choline transport underlies hereditary motor neuropathy. Am J Hum Genet 91:1103–7
10. Basel-Vanagaite L, Zevit N, Zahav AH et al (2012) Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase1. Am J Hum Genet 90:49–60
11. Bejaoui K, Wu C, Scheffler (2001) SPTLC1 is mutated in hereditary sensory neuropathy, type 1. Nat Genet 27:261–262
12. Below JE, Earl DL, Shively KM et al (2013) Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. Am J Hum Genet 92:137–43
13. Brites P, Waterham HR, Ronald JA (2004) Functions and biosynthesis of plasmalogens in health and disease. Biochim Biophys Acta 1636:219–231
14. Cadieux-Dion M, Turcotte-Gauthier M, Noreau A et al (2014) Expanding the clinical phenotype associated with elovl4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia. JAMA Neurol 71:470–475
15. Campeau PM, Lenk GM, Lu JT et al (2013) Yunis-Varón syndrome is caused by mutations in Fig. 4, encoding a phosphoinositide phosphatase. Am J Hum Genet 92:781–91
16. Carrasco C, Merida I (2007) Diacylglycerol, when simplicity becomes complex. Trends Biochem Sci 32:27–36
17. Chiarelli LR, Morera SM, Bianchi P et al (2012) Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency. PLoS One 7:e32065
18. Citterio A, Arnoldi A, Panzeri E (2014) Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis. J Neurol 261(2):373–81
19. Coleman RA, Lee DP (2004) Enzymes of triacylglycerol synthesis and their regulation. Prog Lipid Res 43:134–176
20. Cornell RB, Northwood IC (2000) Regulation of CTP: phosphocholine cytidylyltransferase by amphitropism and relocalization. Trends Biochem Sci 25:441–447
21. Csaki LS, Dwyer JR, Fong LG et al (2013) Lipins, lipinopathies, and the modulation of cellular lipid storage and signalling. Progr Lipid Res 52:305–316
22. D’Souza K, Epand RM (2014) Enrichment of phosphatidylinositol with specific acyl chains. Biochim Biophys Acta 1838:1501–1508
23. Dawkins JL, Hulme DJ, Brahmbhatt SB et al (2001) Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nat Genet 27:309–312
24. Di Gregorio E (2014) ELOVL5 mutations cause spinocerebellar ataxia 38. Am J Hum Genet. doi:10.1016/j.ajhg.2014.07.001
25. Dusi S, Valletta L, Haack TB et al (2014) Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. Am J Hum Genet 2:11–22
26. Esposito G, De Falco F, Tinto N et al (2011) Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase. Hum Mutat 32:1460–1469
27. Fahy E, Subramaniam S, Brown HA et al (2005) A comprehensive classification of lipids. J Lipid Res 46:839–861
28. Feingold KR (2009) The outer frontier: the importance of lipid metabolism in the skin. J Lip Res 50:S417–S422
29. Ferdinandusse S, Denis S, Clayton PT et al (2000) Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. Nat Genet 24:188–91
30. Ferguson PJ, Chen S, Tayeh MK et al (2005) Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet 42:551–557
31. Fischer J, Lefevre C, Morava E et al (2007) The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat Genet 39:28–30
32. Fiskerstrand T, Knappskog P, Majewski J et al (2009) A novel Refsum-like disorder that maps to chromosome 20. Neurology 72:20–27
33. Garwisch K (2012) Tafazzin senses curvatures. Nat Chem Biol 8:811–12
34. Grall A, Guaguère E, Planchais S et al (2012) PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet 44:140–7
35. Gregory A, Hayflick SJ (2005) Neurodegeneration with brain iron accumulation. Folia Neuropathol 43:286–296
36. Gregory A, Westaway SK, Holm IE et al (2008) Neurodegeneration associated with genetic defects in phospholipase A(2). Neurology 71:1402–1409
37. Hannun YA, Obeid LM (2008) Principles of bioactive lipid signalling: lessons from sphingolipids. Nat Rev Mol Cell Biol 9:139–50
38. Hiltunen JK, Autio KJ, Schonauer MS et al (2010) Mitochondrial fatty acid synthesis and respiration. Biochim Biophys Acta 1797:1195–202
39. Hoover-Fong J, Sobreira N, Jurgens J et al (2014) Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy. Am J Hum Genet 94:105–112
40. Huber C, Faqeih EA, Bartholdi D et al (2013) Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. Am J Hum Genet 92:144–9
41. Ichida F, Tsubata S, Bowles KR et al (2001) Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation 103:1256–63
42. Inoue H, Baba T, Sato S et al (2012) Roles of SAM and DDHD domains in mammalian intracellular phospholipase A1 KIAA0725p. Biochim Biophys Acta 1823:930–9
43. Israeli S, Khamaysi Z, Fuchs-Telem D et al (2011) A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis. Am J Hum Genet 88:482–7
44. Jakobsson A, Westerberg R, Jacobsson A (2006) Fatty acid elongases in mammals: their regulation and roles in metabolism. Prog Lipid Res 45:237–249
45. Jobard F, Lefèvre C, Karaduman A et al (2002) Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. Hum Mol Genet 11:107–13
46. Joshi M, Eagan J, Desai NK (2014) A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis,and hypertriglyceridemia. Eur J Hum Genet. doi:10.1038/ejhg.8
47. Kapina V, Sedel F, Truffert A et al (2010) Relapsing rhabdomyolysis due to peroxisomal alpha-methylacyl-coa racemase deficiency. Neurology 75:1300–2
48. Kennedy EE (1989) Discovery of the pathways for the biosynthesis of phosphatidylcholine. In: Vance DE (ed) Phosphatidylcholine metabolism. CRC Press, Boca Raton, pp 1–9
49. Kienesberger PC, Oberer M, Lass A, Zechner R (2009) Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions. J Lipid Res 50(Suppl):S63–8
50. Kolter T (2011) A view on sphingolipids and disease. Chem Phys Lipids 164:590–606
51. Lamari F, Mochel F, Sedel F, Saudubray JM (2013) Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases. J Inherit Metab Dis 36(3):411–25
52. Lefévre C, Audebert S, Jobard F et al (2003) Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. Hum Mol Genet 12:2369–78
53. Lefèvre C, Bouadjar B, Ferrand V et al (2006) Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. Hum Mol Genet 15:767–76
54. Lemaire M, Frémeaux-Bacchi V, Schaefer F (2013) Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat Genet 45:531–6
55. Margot G, Paulick MG, Carolyn R, Bertozz CR (2008) The glycosylphosphatidylinositol anchor: a complex membrane-anchoring structure for proteins. Biochemistry 47:6991–7000
56. Martin E, Palmic N, Sanquer S et al (2014) CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation. Nature 510:288–292
57. Mayr JA, Zimmermann FA, Fauth C (2011) Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation. Am J Hum Genet 89:792–797
58. Mayr JA, Haack TB, Graf E et al (2012) Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am J Hum Genet 90:314–320
59. Merolli A, Santin M (2009) Role of phosphatidyl-serine in bone repair and its technological exploitation. Molecules 22:5367–81
60. Merrill AH Jr, Sandhoff K (2002) Sphingolipids: Metabolism and cell signaling. In: Vance DE, Vance JE (eds) New comprehensive biochemistry: biochemistry of lipids, lipoproteins, and membranes. Elsevier Science, New York, pp 373–407
61. Michot C, Hubert L, Brivet M et al (2010) LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood. Hum Mutat 31:E1564–E1573
62. Michot C, Huber L, Pomero NB et al (2012) Study of LPIN1, LPIN 2, and LPIN3 in rhabdomyolysis and execcise induced-myalgia. J Inherit Metab Dis 35:1119–1128
63. Mir H, Raza SI, Touseef M (2014) A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity. BMC Med Genet 15:25, 26
64. Mitsuhashi S, Ohkuma A, Talim B et al (2011) A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. Am J Hum Genet 10:845–851
65. Molday RS, Zhong M, Quazi F (2009) The role of the photoreceptor ABC transporter ABCA4 in lipid transport and stargradt macular degeneration. Biochim Biophys Acta 1791:573–583
66. Morel E, Chamoun Z, Lasiecka ZM (2013) Phosphatidylinositol-3 phosphate regulates sorting and processing of amyloid precursor protein through the endosomal system. Nat Commun 4:2250
67. Muhammad E, Reish O, Ohno Y et al (2013) Congenital myopathy is caused by mutation of HACD1. Hum Mol Genet 22:5229–36
68. Mühlhausen C, Salomons GS, Lukacs Z et al(2014) Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment. J Inherit Metab Dis Apr 1. [Epub ahead of print]
69. Munnich A, Saudubray JM, Coude FX et al (1980) Fatty acid-responsive alopecia in multiple carboxylase deficiency. Lancet 17:1080–1081
70. Murakami Y, Tawamie H, Maeda Y et al (2014) Null mutation in PGAP1 impairing GPI-anchor maturation in patients with intellectual disability and encephalopathy. PLoS Genet 10(5): e1004320. doi:10.1371
71. Nishiguchi KM, Avila-Fernandez A, van Huet RA et al (2014) Exome sequencing extends the phenotypic spectrum for abhd12 mutations: from syndromic to nonsyndromic retinal degeneration. Ophthalmology 31. pii: S0161-6420(14)00138-9
72. Nota B, Struys EA, Pop A et al (2013) Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. Am J Hum Genet 92:627–31
73. Oikawa T, Kuroda Y, Matsuo K (2013) Regulation of osteoclasts by membrane-derived lipid mediators. Cell Mol Life Sci 70:3341–53
74. Oji V, Tadini G, Akiyama M et al (2010) Revised nomenclature and classification of inherited ichthyoses: results of the first ichthyosis consensus conference in Sorèze 2009. J Am Acad Dermatol 63:607–41
75. Ombrello MJ, Remmers EF, Sun G et al (2012) Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. New Eng J Med 366:330–338
76. Paisán-Ruiz C, Guevara R, Federoff M et al (2010) Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. Mov Dis- ord 25:1791–1800
77. Platt FM (2014) Sphingolipid lysosomal storage disorders. Nature 510:68–75
78. Quehenberger O, Armando AM, Brown AH et al (2010) Lipidomics reveals a remarkable diversity of lipids in human plasma. J Lipid Res 51:3299–3305
79. Rainier S, Bui M, Mark E et al (2008) Neuropathy target esterase gene mutations cause motor neuron disease. Am J Hum Genet 82:780–785
80. Reilich P, Horvath R, Krause S et al (2011) The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene. J Neurol 258:1987–97
81. Resh MD (2012) Targeting protein lipidation in disease. Trends Mol Med 18:206–14
82. Riezman H (2007) The long and short of fatty acids. Cell 130:587–588
83. Rizzo WB (2014) Fatty aldehyde and fatty alcohol metabolism: review and importance for epidermal structure and function. Biochim Biophys Acta 1841:377–389
84. Salaun C, Greaves J, Chamberlain LH (2010) The intracellular dynamic of protein palmitoylation. J Cell Biol 191:1229–38
85. Sarig O, Goldsher D, Nousbeck J et al (2013) Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1. Am J Med Genet A 161:2204–15
86. Schuurs-Hoeijmakers JH, Vulto-van Silfhout AT, Vissers LE et al (2013) Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. J Med Genet 50:802–11
87. Shaheen R, Rahbeeni Z, Alhashem A et al (2014) Neu-laxova syndrome, an inborn error of serine metabolism. is caused by mutations in PHGDH. Am J Hum Genet 94:898–904
88. Soreze Y, Boutron A, Habarou F et al (2013) Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. Orphanet J Rare Dis 8:192
89. Sousa SB, Jenkins D, Chanudet E et al (2014) Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. Nature Genet 46:70–77
90. Sparrow JR, Wu Y, Zhou J (2010) Phospholipids meets all-trans-retinal: the making of RPE bisretinoids. J Lipid Res 51:247–261
91. Synofzik M, Gonzalez MA, Lourenco CM et al (2014) PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Brain 137:69–77
92. Tesson C, Nawara M, Salih MA et al (2012) Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am J Hum Genet 91:1051–64
93. Thompson SA, Calvin J, Hogg S et al (2008) Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiency. J Neurol Neurosurg Psychiatry 79:448–50
94. van der Crabben SN, Verhoeven-Duif NM, Brilstra EH et al (2013) An update on serine deficiency disorders. J Inher Metab Dis 36:613–619
95. Vance DE, (2002) Phospholipid biosynthesis in eukaryotes, in Biochemistry of Lipids, Lipoproteins and Membranes Vance D.E. and. Vance J.E (Eds.) (4th Edn)
96. Vance JE, Tasseva G (2013) Formation and function of phosphatidylserine and phosphatidylethanolamine in mammalian cells. Biochim Biophys Acta 1831:543–554
97. Verhoeven NM, Jakobs C (2001) Human metabolism of phytanic acid and pristanic acid. Prog Lip Res 40:453–456
98. Wallner S, Scmitz G (2011) Plasmalogens the neglected regulatory and scavenging lipid species. Chem Phys Lipids 164:573–589
99. Wanders RJ, Komen J, Ferdinandusse S (2011) Phytanic acid metabolism in health and disease. Biochim Biophys Acta 1811:498–507
100. Willemsen MA, Ijlst L, Steijlen PM et al (2001) Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjogren-Larsson syndrome. Brain 124:1426–1437
101. Wortmann SB, Vaz FM, Gardeitchik T et al (2012) Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet 44:797–802
102. Xu C, Zheng Z, Fang L et al (2013) Phosphatidylserine enhances osteogenic differentiation in human mesenchymal stem cells via ERK signal pathways. Mater Sci Eng C Mater Biol Appl 33:1783–8
103. Yamamoto GL, Wagner ARB, Almeida TF et al (2014) Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy. Am J Hum Genet 94:113–119
104. Yoshino H, Tomiyama H, Tachibana N et al (2010) Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism. Neurology 75:1356–1361
105. Zeharia A, Shaag A, Houtkooper RH (2009) Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood. Am J Hum Genet 83:489–494, 2008. Note: Erratum: Am J Hum Genet 84: 95 only, 2009
106. Zhang K, Kniazeva M, Han M et al (2001) A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nat Genet 27:89–93
107. Zhou B, Westaway SK, Levinson B et al (2001) A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet 28:345–349