Niemann-pick type C-2 disease: Identification by analysis of plasma cholestane-3β,5α,6β-triol and further insight into the clinical phenotype

JIMD Reports

Volumn 23, Issue , 2015, Pages 17-26

  Reunert, Janine ^a   Lotz Havla, Amelie S ^b   Polo, Giulia ^c   Kannenberg, Frank ^a   Fobker, Manfred ^a   Griese, Matthias ^b   Mengel, Eugen ^d   Muntau, Ania C ^b   Schnabel, Philipp ^e,f   Sommerburg, Olaf ^f   Borggraefe, Ingo ^b   Dardis, Andrea ^g   Burlina, Alessandro P ^h   Mall, Matthias A ^f   Ciana, Giovanni ^g   Bembi, Bruno ^g   Burlina, Alessandro B ^c   Marquardt, Thorsten ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c UNIVERSITY HOSPITAL OF PADOVA   (Italy)

^d UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^e UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^f UNIVERSITY OF HEIDELBERG   (Germany)

^g SANTA MARIA DELLA MISERICORDIA UNIVERSITY HOSPITAL   (Italy)

^h St Bassiano Hospital   (Italy)

Author keywords

Cholestane 3 ,5 ,6 triol; Niemann pick type c disease; Npc2; Oxysterols; Pulmonary alveolar proteinosis

Indexed keywords

EID: 84974659781     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2015_423     Document Type: Chapter

References (28)

1. Alavi A, Nafissi S, Shamshiri H, Nejad MM, Elahi E (2013) Identification of mutation in NPC2 by exome sequencing results in diagnosis of Niemann-Pick disease type C. Mol Genet Metab 110:139–144
2. Blanchette-Mackie EJ, Dwyer NK, Amende LM et al (1988) Type-C Niemann-Pick disease: low density lipoprotein uptake is associated with premature cholesterol accumulation in the Golgi complex and excessive cholesterol storage in lysosomes. Proc Natl Acad Sci U S A 85:8022–8026
3. Boenzi S, Deodato F, Taurisano R et al (2014) A new simple and rapid LC–ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann–Pick type C disease. Clin Chim Acta 437:93–100. doi:10.1016/j.cca.2014.07.010
4. Bonney DK, O’Meara A, Shabani A et al (2010) Successful allogeneic bone marrow transplant for Niemann–Pick disease type C2 is likely to be associated with a severe “graft versus substrate” effect. J Inherit Metab Dis 33:171–173. doi:10.1007/s10545-010-9060-3
5. Breen C, Wynn RF, O’Meara A et al (2013) Developmental outcome post allogenic bone marrow transplant for Niemann Pick Type C2. Mol Genet Metab 108:82–84. doi:10.1016/j. ymgme.2012.11.006
6. Carstea ED, Morris JA, Coleman KG et al (1997) Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science 277:228–231. doi:10.1126/science.277.5323.228
7. Griese M, Brasch F, Aldana V et al (2010) Respiratory disease in Niemann-Pick type C2 is caused by pulmonary alveolar proteinosis. Clin Genet 77:119–130. doi:10.1111/j.1399-0004.2009.01325.x
8. Higgins ME, Davies JP, Chen FW, Ioannou YA (1999) Niemann–Pick C1 is a late endosome-resident protein that transiently associates with lysosomes and the trans-Golgi network. Mol Genet Metab 68:1–13. doi:10.1006/mgme.1999.2882
9. Hollak CE, van Weely S, van Oers MH, Aerts JM (1994) Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J Clin Invest 93:1288–1292. doi:10.1172/JCI117084
10. Jiang X, Sidhu R, Porter FD 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. doi:10.1194/jlr. D015735
11. Klansek JJ, Yancey P, Clair RWS et al (1995) Cholesterol quantitation by GLC: artifactual formation of short-chain steryl esters. J Lipid Res 36:2261–2266
12. Klunemann HH, Elleder M, Kaminski WE et al (2002) Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/ NPC2. Ann Neurol 52:743–749
13. Lin N, Zhang H, Qiu W et al (2014) Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease. J Lipid Res 55:338–343. doi:10.1194/jlr.D044024
14. Mengel E, Klunemann H-H, Lourenco CM et al (2013) Niemann-Pick disease type C symptomatology: an expert-based clinical description. Orphanet J Rare Dis 8:166. doi:10.1186/1750-1172-8-166
15. Millat G, Chikh K, Naureckiene S 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. doi:10.1086/324068
16. Millat G, Baïlo N, Molinero S et al (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. doi:10.1016/j.ymgme.2005.07.007
17. Okamura N, Kiuchi S, Tamba M et al (1999) A porcine homolog of the major secretory protein of human epididymis, HE1, specifically binds cholesterol. Biochim Biophys Acta BBA Mol Cell Biol Lipids 1438:377–387. doi:10.1016/S1388-1981(99) 00070-0
18. Patterson MC, Hendriksz CJ, Walterfang M et al (2012) Recommendations for the diagnosis and management of Niemann–Pick disease type C: an update. Mol Genet Metab 106:330–344. doi:10.1016/j.ymgme.2012.03.012
19. Porter FD, Scherrer DE, Lanier MH et al (2010) Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann–Pick C1 disease. Sci Transl Med 2:56ra81. doi:10.1126/scitranslmed.3001417
20. Reddy JV, Ganley IG, Pfeffer SR (2006) Clues to neuro-degenera-tion in Niemann-Pick type C disease from global gene expression profiling. PloS One 1:e19. doi:10.1371/journal. pone.0000019
21. Ries M, Schaefer E, Luhrs T 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. doi:10.1007/s10545-006-0363-3
22. Schofer O, Mischo B, Puschel W et al (1998) Early-lethal pulmonary form of Niemann-Pick type C disease belonging to a second, rare genetic complementation group. Eur J Pediatr 157:45–49. doi:10.1007/s004310050764
23. SSIEM (2014) Annual symposium: abstracts. J Inherit Metab Dis 37:27–185. doi:10.1007/s10545-014-9740-5
24. Storch J, Xu Z (2009) Niemann–Pick C2 (NPC2) and intracellular cholesterol trafficking. Biochim Biophys Acta BBA Mol Cell Biol Lipids 1791:671–678. doi:10.1016/j.bbalip.2009.02.001
25. Vanier MT, Rodriguez-Lafrasse C, Rousson R et al (1991) Type C Niemann–Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing. Biochim Biophys Acta 1096:328–337
26. Verot L, Chikh K, Freydière E et al (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. doi:10.1111/j.1399-0004.2007.00782.x
27. Wraith JE, Baumgartner MR, Bembi B et al (2009) Recommendations on the diagnosis and management of Niemann–Pick disease type C. Mol Genet Metab 98:152–165. doi:10.1016/j. ymgme.2009.06.008
28. Zampieri S, Mellon SH, Butters TD et al (2009) Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone. J Cell Mol Med 13:3786–3796. doi:10.1111/j.1582-4934.2008.00493.x