Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening

EBioMedicine

Volumn 4, Issue , 2016, Pages 170-175

  Reunert, Janine ^a   Fobker, Manfred ^a   Kannenberg, Frank ^a   Du Chesne, Ingrid ^a   Plate, Maria ^a   Wellhausen, Judith ^a   Rust, Stephan ^a   Marquardt, Thorsten ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

Cholestantriol; Diagnostic test; Niemann Pick type C; Oxysterols

Indexed keywords

ACID LIPASE; BIOLOGICAL MARKER; CHITOTRIOSIDASE; CHOLESTANE DERIVATIVE; FILIPIN; GLUCOSYLCERAMIDASE; OXYSTEROL; OXYSTEROL CHOLESTANE 3BETA,5ALPHA,6BETA TRIOL; SPHINGOMYELIN PHOSPHODIESTERASE; UNCLASSIFIED DRUG; CARRIER PROTEIN; CHOLESTANE-3,5,6-TRIOL; CHOLESTANOL; GLYCOPROTEIN; MEMBRANE PROTEIN; NPC1 PROTEIN, HUMAN; NPC2 PROTEIN, HUMAN; SPHINGOMYELIN PHOSPHODIESTERASE 1, HUMAN;

AGE; ARTICLE; CHILD; CHOLESTEROL ESTER STORAGE DISEASE; CHOLESTEROL TRANSPORT; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; ENZYME ACTIVITY; FRAMESHIFT MUTATION; GAUCHER DISEASE; GENETIC ANALYSIS; HEPATOSPLENOMEGALY; HETEROZYGOSITY; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MASS FRAGMENTOGRAPHY; METABOLIC DISORDER; MISSENSE MUTATION; NIEMANN PICK DISEASE; NONSENSE MUTATION; OBSTRUCTIVE JAUNDICE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECEIVER OPERATING CHARACTERISTIC; SANGER SEQUENCING; SCHOOL CHILD; SENSITIVITY AND SPECIFICITY; BLOOD; GENETICS;

BIOMARKERS; CARRIER PROTEINS; CHOLESTANOLS; GLYCOPROTEINS; HUMANS; MEMBRANE GLYCOPROTEINS; NIEMANN-PICK DISEASE, TYPE C; SPHINGOMYELIN PHOSPHODIESTERASE;

EID: 84952000301     PISSN: None     EISSN: 23523964     Source Type: Journal    
DOI: 10.1016/j.ebiom.2015.12.018     Document Type: Article

References (23)

1. Bauer, P., Balding, D.J., Klünemann, H.H., et al. Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study. Hum. Mol. Genet. 22 (2013), 4349–4356.
2. Boenzi, S., Deodato, F., Taurisano, R., et al. 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 (2014), 93–100.
3. Carstea, E.D., Morris, J.A., Coleman, K.G., et al. Niemann–Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science 277 (1997), 228–231.
4. Chang, K.-L., Hwu, W.-L., Yeh, H.-Y., Lee, N.-C., Chien, Y.-H., CCL18 as an alternative marker in Gaucher and Niemann–Pick disease with chitotriosidase deficiency. Blood Cells Mol. Dis. 44 (2010), 38–40.
5. Choi, Y., Sims, G.E., Murphy, S., Miller, J.R., Chan, A.P., Predicting the functional effect of amino acid substitutions and indels. PLoS One, 7, 2012, e46688.
6. Griese, M., Brasch, F., Aldana, V., et al. Respiratory disease in Niemann–Pick type C2 is caused by pulmonary alveolar proteinosis. Clin. Genet. 77 (2010), 119–130.
7. Hollak, C.E., van Weely, S., van Oers, M.H., Aerts, J.M., Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J. Clin. Invest. 93 (1994), 1288–1292.
8. Jiang, X., Sidhu, R., Porter, F.D., et al. A sensitive and specific LC–MS/MS method for rapid diagnosis of Niemann–Pick C1 disease from human plasma. J. Lipid Res. 52 (2011), 1435–1445.
9. Lin, N., Zhang, H., Qiu, W., et al. Determination of 7-ketocholesterol in plasma by LC–MS for rapid diagnosis of acid SMase-deficient Niemann–Pick disease. J. Lipid Res. 55 (2014), 338–343.
10. Mengel, E., Klunemann, H.-H., Lourenco, C.M., et al. Niemann–Pick disease type C symptomatology: an expert-based clinical description. Orphanet J. Rare Dis., 8, 2013, 166.
11. Millat, G., Marcais, C., Tomasetto, C., et al. Niemann–Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop. Am. J. Hum. Genet. 68 (2001), 1373–1385.
12. Naureckiene, S., Sleat, D.E., Lackland, H., et al. Identification of HE1 as the second gene of Niemann–Pick C disease. Science 290 (2000), 2298–2301.
13. Patterson, M.C., Vecchio, D., Prady, H., Abel, L., Wraith, J.E., Miglustat for treatment of Niemann–Pick C disease: a randomised controlled study. Lancet Neurol. 6 (2007), 765–772.
14. Patterson, M.C., Hendriksz, C.J., Walterfang, M., Sedel, F., Vanier, M.T., Wijburg, F., Recommendations for the diagnosis and management of Niemann–Pick disease type C: an update. Mol. Genet. Metab. 106 (2012), 330–344.
15. Porter, F.D., Scherrer, D.E., Lanier, M.H., et al. Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann–Pick C1 disease. Sci. Transl. Med., 2, 2010, 56ra81.
16. Reunert, J., Lotz-Havla, A.S., Polo, G., et al. Niemann–Pick type C-2 disease: identification by analysis of plasma cholestane-3β,5α,6β-triol and further insight into the clinical phenotype. JIMD Rep., 2015, 10.1007/8904_2015_423 (published online March 13).
17. Schwarz, J.M., Cooper, D.N., Schuelke, M., Seelow, D., MutationTaster2: mutation prediction for the deep-sequencing age. Nat. Methods 11 (2014), 361–362.
18. Sévin, M., Lesca, G., Baumann, N., et al. The adult form of Niemann–Pick disease type C. Brain 130 (2007), 120–133.
19. Stampfer, M., Theiss, S., Amraoui, Y., et al. Niemann–Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators. Orphanet J. Rare Dis., 8, 2013, 35.
20. Vanier, M., Millat, G., Niemann–Pick disease type C. Clin. Genet. 64 (2003), 269–281.
21. Wassif, C.A., Cross, J.L., Iben, J., et al. High incidence of unrecognized visceral/neurological late-onset Niemann–Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. Genet. Med., 2015, 10.1038/gim.2015.25 (published online March 12).
22. Welford, R.W.D., Garzotti, M., Marques Lourenço, C., et al. Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann–Pick disease type C in a retrospective study. PLoS One, 9, 2014, e114669.
23. Wraith, J.E., Imrie, J., New therapies in the management of Niemann–Pick type C disease: clinical utility of miglustat. Ther. Clin. Risk Manag. 5 (2009), 877–887.