Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids

Journal of Inherited Metabolic Disease

Volumn 38, Issue 1, 2015, Pages 99-110

  Wortmann, Saskia B ^a   Espeel, Marc ^b   Almeida, Ligia ^c   Reimer, Annette ^a   Bosboom, Dennis ^a   Roels, Frank ^b   de Brouwer, Arjan P M ^a   Wevers, Ron A ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

^c NATIONAL INSTITUTE OF HEALTH   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

GONADORELIN; PHOSPHOLIPID;

ANOPHTHALMIA; BARTH SYNDROME; BIOSYNTHESIS; CARDIOMYOPATHY; CATARACT; CEREBELLAR ATAXIA; CHONDRODYSPLASIA; DEFICIENCY; FAMILY HEALTH; GENETICS; HEMOLYTIC UREMIC SYNDROME; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HYPOGONADISM; METABOLISM; METABOLISM, INBORN ERRORS; MICROPHTHALMIA; MUSCULAR DYSTROPHY; MUTATION;

ANOPHTHALMOS; BARTH SYNDROME; CARDIOMYOPATHIES; CATARACT; CEREBELLAR ATAXIA; FAMILY HEALTH; GONADOTROPIN-RELEASING HORMONE; HEMOLYTIC-UREMIC SYNDROME; HUMANS; HYPOGONADISM; METABOLISM, INBORN ERRORS; MICROPHTHALMOS; MUSCULAR DYSTROPHIES; MUTATION; OSTEOCHONDRODYSPLASIAS; PHOSPHOLIPIDS; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 84920098780     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-014-9759-7     Document Type: Review

References (67)

1. Aldahmesh MA, Khan AO, Mohamed JY, Alghamdi MH, Alkuraya FS (2012) Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. Hum Mutat 33:960–962. doi:10.1002/humu.22071
2. Arikketh D, Nelson R, Vance JE (2008) Defining the importance of phosphatidylserine synthase-1 (PSS1): unexpected viability of PSS1-deficient mice. J Biol Chem 283:12888–12897. doi:10.1074/jbc.M800714200
3. Baba T, Kashiwagi Y, Arimitsu N (2014) Phosphatidic acid (PA)-preferring phospholipase A1 regulates mitochondrial dynamics. J Biol Chem 289:11497–11511. doi:10.1074/jbc.M113.531921
4. Barth PG, Scholte HR, Berden JA (1983) An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J Neurol Sci 62:327–355
5. Bektas M, Payne SG, Liu H (2005) A novel acylglycerol kinase that produces lysophosphatidic acid modulates cross talk with EGFR in prostate cancer cells. J Cell Biol 169:801–811. doi:10.1083/jcb.200407123
6. Bergo MO, Gavino BJ, Steenbergen R (2002) Defining the importance of phosphatidylserine synthase 2 in mice. J Biol Chem 277:47701–47708. doi:10.1074/jbc.M207734200
7. Bione S, D’Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D (1996) A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nat Genet 12:385–389. doi:10.1038/ng0496-385
8. Chen DH, Naydenov A, Blankman JL (2013) Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects. Hum Mutat 34:1672–1678. doi:10.1002/humu.22437
9. Chuang SS, Helvig C, Taimi M (2004) CYP2U1, a novel human thymus- and brain-specific cytochrome P450, catalyzes omega- and (omega-1)-hydroxylation of fatty acids. J Biol Chem 279:6305–6314. doi:10.1074/jbc.M311830200
10. 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 261:373–381. doi:10.1007/s00415-013-7206-6
11. Clarke SL, Bowron A, Gonzalez IL (2013) Barth syndrome. Orphanet J Rare Dis 8:23. doi:10.1186/1750-1172-8-23
12. Cowell CF, Doppler H, Yan IK, Hausser A, Umezawa Y, Storz P (2009) Mitochondrial diacylglycerol initiates protein-kinase D1-mediated ROS signaling. J Cell Sci 122:919–928. doi:10.1242/jcs.041061
13. Criscuolo C, Guacci A, Carbone R (2013) Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataracts (PHARC) screening in an Italian population. Eur J Neurol 20:e60. doi:10.1111/ene.12056
14. Eisenberger T, Slim R, Mansour A (2012) Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3. Orphanet J Rare Dis 7:59. doi:10.1186/1750-1172-7-59
15. Fiskerstrand T, Knappskog P, Majewski J, Wanders RJ, Boman H, Bindoff LA (2009) A novel Refsum-like disorder that maps to chromosome 20. Neurology 72:20–27. doi:10.1212/01.wnl.0000333664.90605.23
16. Fiskerstrand T, H’Mida-Ben Brahim D, Johansson S (2010) Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism. Am J Hum Genet 87:410–417. doi:10.1016/j.ajhg.2010.08.002
17. Gutierrez Rios P, Kalra AA, Wilson JD (2012) Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene. Arch Neurol 69:657–661. doi:10.1001/archneurol.2011.2333
18. Hoover-Fong J, Sobreira N, Jurgens J (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. doi:10.1016/j.ajhg.2013.11.018
19. Inoue H, Baba T, Sato S (2012) Roles of SAM and DDHD domains in mammalian intracellular phospholipase A1 KIAA0725p. Biochim Biophys Acta 1823:930–939. doi:10.1016/j.bbamcr.2012.02.002
20. Jefferies JL (2013) Barth syndrome. Am J Med Genet C Semin Med Genet 163C:198–205. doi:10.1002/ajmg.c.31372
21. Jordens EZ, Palmieri L, Huizing M (2002) Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome. Ann Neurol 52:95–99. doi:10.1002/ana.10214
22. Kawakita A, Sato K, Makino H (2008) Nicotine acts on growth plate chondrocytes to delay skeletal growth through the alpha7 neuronal nicotinic acetylcholine receptor. PLoS One 3:e3945. doi:10.1371/journal.pone.0003945
23. Kelley RI, Cheatham JP, Clark BJ (1991) X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. J Pediatr 119:738–747
24. 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 36:411–425. doi:10.1007/s10545-012-9509-7
25. Lefevre C, Jobard F, Caux F (2001) Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet 69:1002–1012. doi:10.1086/324121
26. Lemaire M, Fremeaux-Bacchi V, Schaefer F (2013) Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat Genet 45:531–536. doi:10.1038/ng.2590
27. Loirat C, Fremeaux-Bacchi V (2011) Atypical hemolytic uremic syndrome. Orphanet J Rare Dis 6:60. doi:10.1186/1750-1172-6-60
28. Mayr JA (2014) Lipid metabolism in mitochondrial membranes. doi:10.1007/s10545-014-9748-x
29. Mayr JA, Haack TB, Graf E (2012) Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am J Hum Genet 90:314–320. doi:10.1016/j.ajhg.2011.12.005
30. Michot C, Hubert L, Romero NB (2012) Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia. J Inherit Metab Dis 35:1119–1128. doi:10.1007/s10545-012-9461-6
31. Mitsuhashi S, Ohkuma A, Talim B (2011) A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. Am J Hum Genet 88:845–851. doi:10.1016/j.ajhg.2011.05.010
32. Miyagawa T, Kawashima M, Nishida N (2008) Variant between CPT1B and CHKB associated with susceptibility to narcolepsy. Nat Genet 40:1324–1328. doi:10.1038/ng.231
33. Morava E, Sengers R, Ter Laak H (2004) Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome. Eur J Pediatr 163:467–471. doi:10.1007/s00431-004-1465-2
34. Morikawa RK, Aoki J, Kano F (2009) Intracellular phospholipase A1gamma (iPLA1gamma) is a novel factor involved in coat protein complex I- and Rab6-independent retrograde transport between the endoplasmic reticulum and the Golgi complex. J Biol Chem 284:26620–26630. doi:10.1074/jbc.M109.038869
35. Muller-Hocker J, Muntau A, Schafer S (2002) Depletion of mitochondrial DNA in the liver of an infant with neonatal giant cell hepatitis. Hum Pathol 33:247–253
36. Nakajima K, Sonoda H, Mizoguchi T (2002) A novel phospholipase A1 with sequence homology to a mammalian Sec23p-interacting protein, p125. J Biol Chem 277:11329–11335. doi:10.1074/jbc.M111092200
37. Nishiguchi KM, Avila-Fernandez A, van Huet RA (2014) Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. Ophthalmology doi:10.1016/j.ophtha.2014.02.008
38. Noris M, Mescia F, Remuzzi G (2012) STEC-HUS, atypical HUS and TTP are all diseases of complement activation. Nat Rev Nephrol 8:622–633. doi:10.1038/nrneph.2012.195
39. Novarino G, Fenstermaker AG, Zaki MS (2014) Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 343:506–511. doi:10.1126/science.1247363
40. Ozaltin F, Li B, Rauhauser A, An SW (2013) DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN. J Am Soc Nephrol 24:377–384. doi:10.1681/asn.2012090903
41. Perry MS, Sladky JT (2008) Neuroradiologic findings in Sengers syndrome. Pediatr Neurol 39:113–115. doi:10.1016/j.pediatrneurol.2008.05.003
42. Quinlivan R, Mitsuahashi S, Sewry C (2013) Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype. Neuromuscul Disord 23:549–556. doi:10.1016/j.nmd.2013.04.002
43. Rainier S, Bui M, Mark E (2008) Neuropathy target esterase gene mutations cause motor neuron disease. Am J Hum Genet 82:780–785. doi:10.1016/j.ajhg.2007.12.018
44. Rimmerman N, Bradshaw HB, Basnet A (2009) Microsomal omega-hydroxylated metabolites of N-arachidonoyl dopamine are active at recombinant human TRPV1 receptors. Prostaglandins Other Lipid Mediat 88:10–17. doi:10.1016/j.prostaglandins.2008.08.004
45. Robbins RC, Bernstein D, Berry GJ (1995) Cardiac transplantation for hypertrophic cardiomyopathy associated with Sengers syndrome. Ann Thorac Surg 60:1425–1427. doi:10.1016/0003-4975(95)00529-t
46. Roberts AE, Nixon C, Steward CG (2012) The Barth syndrome registry: distinguishing disease characteristics and growth data from a longitudinal study. Am J Med Genet A 158A:2726–2732. doi:10.1002/ajmg.a.35609
47. Roels F, Verloo P, Eyskens F (2009) Mitochondrial mosaics in the liver of 3 infants with mtDNA defects. BMC Clin Pathol 9:4. doi:10.1186/1472-6890-9-4
48. Sarig O, Goldsher D, Nousbeck J (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 161:2204–2215. doi:10.1002/ajmg.a.36059
49. Sato S, Inoue H, Kogure T, Tagaya M, Tani K (2010) Golgi-localized KIAA0725p regulates membrane trafficking from the Golgi apparatus to the plasma membrane in mammalian cells. FEBS Lett 584:4389–4395. doi:10.1016/j.febslet.2010.09.047
50. Schuurs-Hoeijmakers JH, Vulto-van Silfhout AT, Vissers LE (2013) Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. J Med Genet 50:802–811. doi:10.1136/jmedgenet-2013-101644
51. Sher RB, Aoyama C, Huebsch KA (2006) A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis. J Biol Chem 281:4938–4948. doi:10.1074/jbc.M512578200
52. Siriwardena K, Mackay N, Levandovskiy V (2013) Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations. Mol Genet Metab 108:40–50. doi:10.1016/j.ymgme.2012.11.282
53. Sousa SB, Jenkins D, Chanudet E (2014) Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. Nat Genet 46:70–76. doi:10.1038/ng.2829
54. Synofzik M, Gonzalez MA, Lourenco CM (2014) PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Brain 137:69–77. doi:10.1093/brain/awt326
55. Tesson C, Nawara M, Salih MA (2012) Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am J Hum Genet 91:1051–1064. doi:10.1016/j.ajhg.2012.11.001
56. Tort F, Garcia-Silva MT, Ferrer-Cortes X (2013) Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. Mol Genet Metab 110:73–77. doi:10.1016/j.ymgme.2013.04.021
57. Vreken P, Valianpour F, Nijtmans LG (2000) Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome. Biochem Biophys Res Commun 279:378–382. doi:10.1006/bbrc.2000.3952
58. Wen H, Ostman J, Bubb KJ (2012) 20-Hydroxyeicosatetraenoic acid (20-HETE) is a novel activator of transient receptor potential vanilloid 1 (TRPV1) channel. J Biol Chem 287:13868–13876. doi:10.1074/jbc.M111.334896
59. Westland R, Bodria M, Carrea A (2014) Phenotypic expansion of DGKE-associated diseases. J Am Soc Nephrol. doi:10.1681/asn.2013080886
60. Wortmann SB, Kluijtmans LA, Engelke UF, Wevers RA, Morava E (2012a) The 3-methylglutaconic acidurias: what’s new? J Inherit Metab Dis 35:13–22. doi:10.1007/s10545-010-9210-7
61. Wortmann SB, Vaz FM, Gardeitchik T (2012b) Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet 44:797–802. doi:10.1038/ng.2325
62. Wortmann SB, Kluijtmans LA, Rodenburg RJ (2013) 3-Methylglutaconic aciduria–lessons from 50 genes and 977 patients. J Inherit Metab Dis 36:913–921. doi:10.1007/s10545-012-9579-6
63. Wortmann SB, De Brouwer APM, Wevers RA, Morava E (2014) MEGDEL syndrome. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K (eds) Gene reviews (R). University of Washington, Seattle, Seattle (WA)
64. Yamamoto GL, Baratela WA, Almeida TF (2014) Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy. Am J Hum Genet 94:113–119. doi:10.1016/j.ajhg.2013.11.022
65. Zaccheo O, Dinsdale D, Meacock PA, Glynn P (2004) Neuropathy target esterase and its yeast homologue degrade phosphatidylcholine to glycerophosphocholine in living cells. J Biol Chem 279:24024–24033. doi:10.1074/jbc.M400830200
66. Zuber J, Fakhouri F, Roumenina LT, Loirat C, Fremeaux-Bacchi V, French Study Group for a HCG (2012) Use of eculizumab for atypical haemolytic uraemic syndrome and C3 glomerulopathies. Nat Rev Nephrol 8:643–657. doi:10.1038/nrneph.2012.214
67. Zweigner J, Jackowski S, Smith SH, Van Der Merwe M, Weber JR, Tuomanen EI (2004) Bacterial inhibition of phosphatidylcholine synthesis triggers apoptosis in the brain. J Exp Med 200:99–106. doi:10.1084/jem.20032100