Niemann-Pick C disease: Functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2

Clinical Genetics

Volumn 71, Issue 4, 2007, Pages 320-330

  Verot, L ^a,b,c   Chikh, K ^b,c   Freydiere E ^c   Honore R ^c   Vanier, M T ^a,b,c   Millat, Gilles ^a,b,c  

^a INSERM   (France)

^b UNIVERSITÉ DE LYON   (France)

^c CENTRE HOSPITALIER LYON SUD   (France)

Author keywords

Lysosome; Mutations; Niemann; NPC2; Pick C disease

Indexed keywords

CHOLESTEROL; COMPLEMENTARY DNA; MEMBRANE PROTEIN; PROTEIN NPC2; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; BONE MARROW TRANSPLANTATION; CELLULAR DISTRIBUTION; CLINICAL ARTICLE; COMPUTER MODEL; DNA SPLICING; FAMILY; FEMALE; FIBROBLAST CULTURE; FLUORESCENCE MICROSCOPY; GENE MUTATION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; IMMUNOBLOTTING; INFANT; LYSOSOME; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NIEMANN PICK DISEASE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN LOCALIZATION; SKIN FIBROBLAST;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; CARRIER PROTEINS; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; FEMALE; FIBROBLASTS; GENOTYPE; GLYCOPROTEINS; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MICROSCOPY, FLUORESCENCE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; NIEMANN-PICK DISEASE, TYPE C; PHENOTYPE; RNA SPLICING;

EID: 34247564618     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00782.x     Document Type: Article

References (36)

1. Vanier MT, Suzuki K Niemann-Pick diseases. In: Moser HW, ed. Neurodystrophies and neurolipidoses. Handbook of clinical neurology Vol. 66. Amsterdam: Elsevier Science, 1996: 133-162.
2. Vanier MT, Suzuki K. Recent advances in elucidating Niemann-Pick C disease. Brain Pathol 1998: 8: 163-174.
3. Patterson MC, Vanier MT, Suzuki K et al. 2001. Niemann-Pick disease type C: A lipid trafficking disorder. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B, eds. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill Inc, 2001: 3611-3634.
4. Vanier MT, Millat G. Niemann-Pick disease type C. Clin Genet 2003: 64: 269-281.
5. Steinberg SJ, Ward CP, Fensom AH. Complementation studies in Niemann-Pick disease type C indicate the existence of a second group. J Med Genet 1994: 31: 317-320.
6. Vanier MT, Duthel S, Rodriguez-Lafrasse C, Pentchev P, Carstea ED. Genetic heterogeneity in Niemann-Pick C disease: A study using somatic cell hybridization and linkage analysis. Am J Hum Genet 1996: 58: 118-125.
7. Carstea ED, Morris JA, Coleman KG et al. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science 1997: 77: 228-231.
8. Naureckiene S, Sleat DE, Lackland H et al. Identification of HE1 as the second gene of Niemann-Pick C disease. Science 2000: 290: 2298-2301.
9. Sleat DE, Wiseman JA, El Banna M et al. Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport. Proc Natl Acad Sci USA 2004: 101: 5886-5891.
10. Higgins ME, Davies JP, Chen FW, Ioannou YA. Niemann-Pick C1 is a late endosome-resident protein that transiently associates with lysosomes and the trans-Golgi network. Mol Genet Metab 1999: 68: 1-13.
11. Neufeld EB, Wastney M, Patel S et al. The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo. J Biol Chem 1999: 274: 9627-9635.
12. Greer WL, Dobson MJ, Girouard GS, Byers DM, Riddell DC, Neumann PE. Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain. Am J Hum Genet 1999: 65: 1252-1260.
13. Millat G, Marçais 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 2001: 68: 1373-1385.
14. Watari H, Blanchette-Mackie EJ, Dwyer NK et al. Mutations in the leucine zipper motif and sterol-sensing domain inactivate the Niemann-Pick C1 glycoprotein. J Biol Chem 1999: 274: 21861-21866.
15. Watari H, Blanchette-Mackie EJ, Dwyer NK et al. Niemann-Pick C1 protein: obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization. Proc Natl Acad Sci USA 1999: 96: 805-810.
16. Sun X, Marks DL, Park WD et al. Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1. Am J Hum Genet 2001: 68: 1361-1372.
17. Ribeiro I, Marcao A, Amaral O, Sa Miranda MC, Vanier MT, Millat G. Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol transport alterations. Hum Genet 2001: 109: 24-32.
18. Vanier MT, Millat G. Structure and function of the NPC2 protein. Biochim Biophys Acta 2004: 1685: 14-21.
19. Zhang M, Sun M, Dwyer NK et al. Differential trafficking of the Niemann-Pick C1 and 2 proteins highlights distinct roles in late endocytic lipid trafficking. Acta Paediatr Suppl 2003: 92: 63-73.
20. Chikh K, Vey S, Simonot C, Vanier MT, Millat G. Niemann-Pick type C disease: Importance of N-glycosylation sites for function and cellular location of the NPC2 protein. Mol Genet Metab 2004: 83: 220-230.
21. Okamura N, Kiuchi S, Tamba M et al. A porcine homolog of the major secretory protein of human epididymis, HE1, specifically binds cholesterol. Biochim Biophys Acta 1999: 1438: 377-387.
22. Friedland N, Liou HL, Lobel P, Stock AM. Structure of a cholesterol-binding protein deficient in Niemann-Pick type C2 disease. Proc Natl Acad Sci USA 2003: 100: 2512-2517.
23. Ko DC, Binkley J, Sidow A, Scott MP. The integrity of a cholesterol-binding pocket in Niemann-Pick C2 protein is necessary to control lysosome cholesterol levels. Proc Natl Acad Sci USA 2003: 100: 2518-2525.
24. Liou HL, Dixit SS, Xu S, Tint GS, Stock AM, Lobel P. NPC2, the protein deficient in Niemann-Pick C2 disease, consists of multiple glycoforms that bind a variety of sterols. J Biol Chem 2006: 281: 31710-31723.
25. Cheruku SR, Xu Z, Dutia R, Lobel P, Storch J. Mechanism of cholesterol transfer from the Niemann-Pick type C2 protein to model membranes supports a role in lysosomal cholesterol transport. J Biol Chem 2006: 281: 31594-31604.
26. Millat G, Chikh K, Naureckiene S et al. Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. Am J Hum Genet 2001: 69: 1013-1021.
27. Klünemann HH, Elleder M, Kaminski WE et al. Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2. Ann Neurol 2002: 52: 743-749.
28. Park WD, O'Brien JF, Lundquist PA et al. 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 2003: 22: 313-325.
29. Hui J, To KF, Tang NL. Homozygous Y55X mutation in NPC2 gene resulting in Niemann Pick type C2 disease with early severe pulmonary involvement. J Inherit Metab Dis 2005: 28 (Suppl. 1): 176.
30. Millat G, Bailo N, Molinero S, Rodriguez C, Chikh K, Vanier MT. 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 2005: 86: 220-232.
31. Chikh K, Rodriguez C, Vey S, Vanier MT, Millat G. Niemann-Pick type C disease: Subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations. Hum Mutat 2005: 26: 20-28.
32. Vanier MT, Rodriguez-Lafrasse C, Rousson R et al. Type C Niemann-Pick disease: Spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing. Biochim Biophys Acta 1991: 1096: 328-337.
33. Schofer O, Mischo B, Puschel W, Harzer K, Vanier MT. Early-lethal pulmonary form of Niemann-Pick type C disease belonging to a second rare genetic complementation group. Eur J Pediatr 1998: 157: 45-49.
34. Wilkinson MF. A new function for nonsense-mediated mRNA-decay factors. Trends Genet 2005: 21: 143-148.
35. Fernandez-Valero EM, Ballart A, Iturriaga C et al. Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations. Clin Genet 2005: 68: 245-254.
36. Imrie J, Dasgupta S, Besley GT et al. The natural history of Niemann-Pick disease type C in the UK. J Inherit Metab Dis 2007: 30: 51-59.