Genetic and laboratory diagnostic approach in Niemann Pick disease type C

Journal of Neurology

Volumn 261, Issue SUPPL. 2, 2014, Pages 569-575

  McKay Bounford, K ^a,b   Gissen, P ^c,d,e  

^a BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^b UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

Diagnosis; Genetics; Niemann Pick type C disease (NP C); NPC1; NPC2

Indexed keywords

CHITOTRIOSIDASE; FILIPIN; CARRIER PROTEIN; GLYCOPROTEIN; MEMBRANE PROTEIN; NPC1 PROTEIN, HUMAN; NPC2 PROTEIN, HUMAN;

BONE MARROW BIOPSY; CHOLESTEROL ESTERIFICATION; CHOLESTEROL METABOLISM; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; DIAGNOSTIC TEST ACCURACY STUDY; ELECTRON MICROSCOPY; GENE MUTATION; GENETIC SCREENING; HISTOPATHOLOGY; HUMAN; LIVER BIOPSY; MASS SPECTROMETRY; NIEMANN PICK DISEASE; PRIORITY JOURNAL; REVIEW; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS; SKIN BIOPSY; GENETICS; MUTATION; NIEMANN-PICK DISEASE, TYPE C; PROCEDURES;

CARRIER PROTEINS; GENETIC TESTING; GLYCOPROTEINS; HUMANS; MEMBRANE GLYCOPROTEINS; MUTATION; NIEMANN-PICK DISEASE, TYPE C;

EID: 84906569581     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-014-7386-8     Document Type: Review

References (45)

1. Alvelius G, Hjalmarson O, Griffiths WJ, Bjorkhem I, Sjovall J (2001) Identification of unusual 7-oxygenated bile acid sulfates in a patient with Niemann-Pick disease, type C. J Lipid Res 42:1571-1577
2. Argoff CE, Comly ME, Blanchette-Mackie J, Kruth HS, Pye HT, Goldin E, Kaneski C, Vanier MT et al (1991) Type C Niemann-Pick disease: cellular uncoupling of cholesterol homeostasis is linked to the severity of disruption in the intracellular transport of exogenously derived cholesterol. Biochim Biophys Acta 1096:319-327
3. Bauer P, Knoblich R, Bauer C, Finckh U, Hufen A, Kropp J, Braun S, Kustermann-Kuhn B et al (2002) NPC1: complete genomic sequence, mutation analysis, and characterization of haplotypes. Hum Mutat 19:30-38
4. Boustany RN, Kaye E, Alroy J (1990) Ultrastructural findings in skin from patients with Niemann-Pick disease, type C. Pediatr Neurol 6:177-183
5. Bruce CK, Smith M, Rahman F, Liu ZF, McMullan DJ, Ball S, Hartley J, Kroos MA et al (2010) Design and validation of a metabolic disorder resequencing microarray (BRUM1). Hum Mutat 31:858-865
6. Carstea ED, Morris JA, Coleman KG, Loftus SK, Zhang D, Cummings C, Gu J, Rosenfeld MA et al (1997) Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science 277:228-231
7. Chikh K, Rodriguez C, Vey S, Vanier MT, Millat G (2005) Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations. Hum Mutat 26:20-28
8. Erickson RP (2013) Current controversies in Niemann-Pick C1 disease: steroids or gangliosides; neurons or neurons and glia. J Appl Genet 54:215-224
9. Fernandez-Valero EM, Ballart A, Iturriaga C, Lluch M, Macias J, Vanier MT, Pineda M, Coll MJ (2005) Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations. Clin Genet 68:245-254
10. Friedland N, Liou HL, Lobel P, Stock AM (2003) Structure of a cholesterol-binding protein deficient in Niemann-Pick type C2 disease. Proc Natl Acad Sci USA 100:2512-2517
11. Greer WL, Riddell DC, Gillan TL, Girouard GS, Sparrow SM, Byers DM, Dobson MJ, Neumann PE (1998) The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097- >T transversion in NPC1. Am J Hum Genet 63:52-54
12. Ioannou YA (2000) The structure and function of the Niemann-Pick C1 protein. Mol Genet Metab 71:175-181
13. Jiang X, Sidhu R, Porter FD, Yanjanin NM, Speak AO, te Vruchte DT, Platt FM, Fujiwara H et al (2011) A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma. J Lipid Res 52:1435-1445
14. Jones ML, Murden SL, Bem D, Mundell SJ, Gissen P, Daly ME, Watson SP, Mumford AD et al (2012) Rapid genetic diagnosis of heritable platelet function disorders with next-generation sequencing: proof-of-principle with Hermansky-Pudlak syndrome. J Thromb Haemost 10:306-309
15. Kelly DA, Portmann B, Mowat AP, Sherlock S, Lake BD (1993) Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease. J Pediatr 123:242-247
16. Ko DC, Binkley J, Sidow A, Scott MP (2003) The integrity of a cholesterol-binding pocket in Niemann-Pick C2 protein is necessary to control lysosome cholesterol levels. Proc Natl Acad Sci USA 100:2518-2525
17. Kwon HJ, Abi-Mosleh L, Wang ML, Deisenhofer J, Goldstein JL, Brown MS, Infante RE (2009) Structure of N-terminal domain of NPC1 reveals distinct subdomains for binding and transfer of cholesterol. Cell 137:1213-1224
18. Lloyd-Evans E, Morgan AJ, He X, Smith DA, Elliot-Smith E, Sillence DJ, Churchill GC, Schuchman EH et al (2008) Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. Nat Med 14:1247-1255
19. Macias-Vidal J, Rodriguez-Pascau L, Sanchez-Olle G, Lluch M, Vilageliu L, Grinberg D, Coll MJ, Spanish NPCWG (2011) Molecular analysis of 30 Niemann-Pick type C patients from Spain. Clin Genet 80:39-49
20. Maekawa M, Misawa Y, Sotoura A, Yamaguchi H, Togawa M, Ohno K, Nittono H, Kakiyama G et al (2013) LC/ESI-MS/MS analysis of urinary 3beta-sulfooxy-7beta- N-acetylglucosaminyl-5-cholen-24-oic acid and its amides: new biomarkers for the detection of Niemann-Pick type C disease. Steroids 78:967-972
21. Mavridou I, Cozar M, Douzgou S, Xaidara A, Lianou D, Vanier M, Dimitriou E, Grinberg D et al. (2013) Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island. Clin Genet
22. Millat G, Bailo N, Molinero S, Rodriguez C, Chikh K, Vanier MT (2005) Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families. Mol Genet Metab 86:220-232
23. Millat G, Chikh K, Naureckiene S, Sleat DE, Fensom AH, Higaki K, Elleder M, Lobel P et al (2001) Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. Am J Hum Genet 69:1013-1021
24. Millat G, Marcais C, Rafi MA, Yamamoto T, Morris JA, Pentchev PG, Ohno K, Wenger DA et al (1999) Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype. Am J Hum Genet 65:1321-1329
25. Naureckiene S, Sleat DE, Lackland H, Fensom A, Vanier MT, Wattiaux R, Jadot M, Lobel P (2000) Identification of HE1 as the second gene of Niemann-Pick C disease. Science 290:2298-2301
26. Park WD, O'Brien JF, Lundquist PA, Kraft DL, Vockley CW, Karnes PS, Patterson MC, Snow K (2003) Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. Hum Mutat 22:313-325
27. Patel SC, Suresh S, Kumar U, Hu CY, Cooney A, Blanchette-Mackie EJ, Neufeld EB, Patel RC et al (1999) Localization of Niemann-Pick C1 protein in astrocytes: implications for neuronal degeneration in Niemann-Pick type C disease. Proc Natl Acad Sci USA 96:1657-1662
28. Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F, Group N-CGW (2012) Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab 106:330-344
29. Pentchev PG, Brady RO, Blanchette-Mackie EJ, Vanier MT, Carstea ED, Parker CC, Goldin E, Roff CF (1994) The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol. Biochim Biophys Acta 1225:235-243
30. Pentchev PG, Comly ME, Kruth HS, Vanier MT, Wenger DA, Patel S, Brady RO (1985) A defect in cholesterol esterification in Niemann-Pick disease (type C) patients. Proc Natl Acad Sci USA 82:8247-8251
31. Porter FD, DE Scherrer, Lanier MH, Langmade SJ, Molugu V, Gale SE, Olzeski D, Sidhu R et al (2010) Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease. Sci Transl Med 2:56ra81
32. Ribeiro I, Marcao A, Amaral O, Sa Miranda MC, Vanier MT, Millat G (2001) Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations. Hum Genet 109:24-32
33. Ries M, Schaefer E, Luhrs T, Mani L, Kuhn J, Vanier MT, Krummenauer F, Gal A et al (2006) Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C. J Inherit Metab Dis 29:647-652
34. Sevin M, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, Sedel F (2007) The adult form of Niemann-Pick disease type C. Brain 130:120-133
35. Sleat DE, Wiseman JA, El-Banna M, Price SM, Verot L, Shen MM, Tint GS, Vanier MT et al (2004) Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport. Proc Natl Acad Sci USA 101:5886-5891
36. Sokol J, Blanchette-Mackie J, Kruth HS, Dwyer NK, Amende LM, Butler JD, Robinson E, Patel S et al (1988) Type C Niemann-Pick disease. Lysosomal accumulation and defective intracellular mobilization of low density lipoprotein cholesterol. J Biol Chem 263:3411-3417
37. Tint GS, Pentchev P, Xu G, Batta AK, Shefer S, Salen G, Honda A (1998) Cholesterol and oxygenated cholesterol concentrations are markedly elevated in peripheral tissue but not in brain from mice with the Niemann-Pick type C phenotype. J Inherit Metab Dis 21:853-863
38. Vanier MT (2010) Niemann-Pick disease type C. Orphanet J Rare Dis 5:16
39. Vanier MT, Millat G (2003) Niemann-Pick disease type C. Clin Genet 64:269-281
40. Vanier MT, Rodriguez-Lafrasse C, Rousson R, Gazzah N, Juge MC, Pentchev PG, Revol A, Louisot P (1991) Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing. Biochim Biophys Acta 1096:328-337
41. Verot L, Chikh K, Freydiere E, Honore R, Vanier MT, Millat G (2007) Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2. Clin Genet 71:320-330
42. Vethamany VG, Welch JP, Vethamany SK (1972) Type D Niemann-Pick disease (Nova Scotia variant). Ultrastructure of blood, skin fibroblasts, and bone marrow. Arch Pathol 93:537-543
43. Wraith JE, Baumgartner MR, Bembi B, Covanis A, Levade T, Mengel E, Pineda M, Sedel F et al (2009) Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab 98:152-165
44. Zhang JR, Coleman T, Langmade SJ, Scherrer DE, Lane L, Lanier MH, Feng C, Sands MS et al (2008) Niemann-Pick C1 protects against atherosclerosis in mice via regulation of macrophage intracellular cholesterol trafficking. J Clin Invest 118:2281-2290
45. Zhang M, Dwyer NK, Love DC, Cooney A, Comly M, Neufeld E, Pentchev PG, Blanchette-Mackie EJ et al (2001) Cessation of rapid late endosomal tubulovesicular trafficking in Niemann-Pick type C1 disease. Proc Natl Acad Sci USA 98:4466-4471