Palabras clave:
Lipoproteínas de baja densidad, Enfermedad de Niemann Pick tipo C, Tinción de Filipin, Transporte intracelular de lípidosResumen
La enfermedad de Niemann Pick tipo C es un desorden metabólico difícil de diagnósticar por su heterogeneidad clínica, se caracteriza por una condición neurovisceral causada por la deficiencia en el transporte intracelular de colesterol no esterificado, producido por la acumulación de glucoesfingolípidos en los lisosomas. Algunos pacientes presentan discapacidad cognitiva, problemas de comportamiento, ataxia cerebelosa progresiva, disartria, psicosis, ictericia neonatal, hepatoesplenomegalia, infiltración pulmonar y movimientos oculares sacádicos o rápidos de manera involuntaria, con posterior parálisis supranuclear de la mirada vertical. Esta revisión bibliográfica describe la enfermedad y sus principales pruebas de apoyo diagnóstico, dado que el pronóstico depende de la edad de inicio de las manifestaciones neurológicas. Además, es necesario en nuestro país conocer la frecuencia de la enfermedad y el diagnóstico diferencial con pruebas complementarias como los estudios moleculares para los genes implicados NPC1/2 y cuantificación del nivel de oxiesteroles.
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ACOSTA, J., AYALA, P. & BERMÚDEZ, M. 2012. Mucolipidosis tipo IIenfermedad de células de inclusión. Anales de Pediatría 76(2): 108-114.
AL-DAGHRI, N., CAGLIANI, R., FORNI, D., ALOKAIL, M., POZZOLI, U., ALKHARFY, K., SABICO, S., CLERICI, M. & SIRONI, M. 2012. Mammalian NPC1 genes may undergo positive selection and human polymorphisms associate with type 2 diabetes. BMC Medicine 10: 140.
BAUER, P., KNOBLICH, R., BAUER, C., FINCKH, U., HUFEN, A., KROPP, J., BRAUN, S., KUSTERMANN-KUHN, B., SCHMIDT, D., HARZER, K. & ROLFS, A. 2002. NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes. Human Mutation 19(1): 30-38.
BLANCHETTE-MACKIE, E., DWYER, N., AMENDE, L., KRUTH, H., BUTLER, J., SOKOL, J., COMLY, M., VANI|ER, M., AUGUST, J. & BRADY, R. 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. Proceedings of the National Academy of Sciences of the United States of America 85(21): 8022-8026.
BUTLER, J., COMLY, M., KRUTH, H., VANIER, M., FILLING-KATZ, M., FINK, J., BARTON, N., WEINTROUB, H., QUIRK, J. & TOKORO, T. 1987. Niemann-pick variant disorders: comparison of errors of cellular cholesterol homeostasis in group D and group C fibroblasts. Proceedings of the National Academy of Sciences of the United States of America 84(2): 556-560.
CARDOSO, M., CHAVES, P. & COSTA, C. 2011. Niemann Pick type C in adult patients: results evaluation of miglustat therapy. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Journal of Inherited Metabolic Disease 34(3): 49-286.
DIERKS, T., SCHLOTAWA, L., FRESE, M., RADHAKRISHNAN, K., VON, K. & SCHMIDT, B. 2009. Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann Pick C1 disease Lysosomal storage disorders caused by defects of non-lysosomal proteins. Biochim Biophys Acta 1793(4): 710-725.
FERNÁNDEZ, E., BALLART, A., ITURRIAGA, C., LLUCH, M., MACIAS, J., VANER, M. & PINEDA, M. 2005. Identification of 25 new mutations in 40 unrelated Spanish Niemann Pick type C patients: genotype-phenotype correlations. Instituto de Bioquímica Clínica. Corporación Sanitaria. Clinical Genetics 68(3): 245-54.
FORBES, D., PORTER, D., SCHERRER, M., LANIER, S., JOSHUA, L., VASUMATHI, M., GALE, S., OLZESKI, D., SIDHU, R., DIETZEN, D. J., FU, R., WASSIF, C. A., YANJANIN, N. M., MARSO, S. P., HOUSE, J., VITE, C.,
SCHAFFER, J. E. & ORY, D. S. 2010. Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease. Science Translational Medicine 2(56): 9-22
FROLOV, A., ZIELINSKI, S., CROWLEY, J., DUDLEY-RUCKER, N., SCHAFFER, J. & ORY, D. 2003. NPC1 and NPC2 regulate cellular cholesterol homeostasis through generation of low density lipoprotein cholesterol derived oxysterols. The Journal of biological chemistry 278(28): 25517-25525.
GARVER, W. 2007. The National Niemann Pick C1 database: report of clinical features and health problems. Journal American Journal of Medical Genetics Part A 143: 1204-1211.
GIESE, A., MASCHER, H., GRITTNER, U., EICHLER, S., KRAMP, G., LUKAS, J., TE VRUCHTE, D., AL EISA, N., CORTINA-BORJA, M., PORTER, F., PLATT, F. & ROLFS, A. 2015. A novel, highly sensitive and specific biomarker for Niemann–Pick type C1 disease. Orphanet Journal of Rare Diseases 10(78): 5-8
GOLDMAN, S. & KRISE, J. 2010. Niemann Pick C1 functions independently of Niemann Pick C2 in the initial stage of retrograde transport of membrane impermeable lysosomal cargo. The Journal of biological chemistry 285(7): 4983-4994
GUO, Y., LI, W., WU, R., XIE, Q., ZHANG, Z. & CUI, L. 2008. Niemann Pick type C1 protein influences the delivery of cholesterol to the SREBP: SCAP complex. Brazilian journal of medical and biological research 41(1): 26-33.
IMRIE , J., DASGUPTA, S., BESLEY, G., HARRIS, C., HEPTINSTALL, L., KNIGHT, S., VANIER, M., FENSOM, A., WARD, C., JACKLIN, E., WHITEHOUSE, C. & WRAITH, J. 2007. The natural history of Niemann–Pick
disease type C in the UK. Journal of Inherited Metabolic Disease 30(1): 51-59.
IMRIE, J., HEPTINSTALL, L., KNIGHT, S., & STRONG, K. 2015. Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database. BMC Neurology 257: 1-23.
KRUTH, H. 1984. Histochemical detection of esterified cholesterol within human atherosclerotic lesions using the fluorescent probe filipin. Atherosclerosis 51(2-3): 281-292.
KRUTH, H. 1987. Accumulation of unesterified cholesterol in limbal cornea and conjunctiva of rabbits fed a high-cholesterol diet. Detection with filipin. Atherosclerosis 63(1): 1–6.
LARIO, A., DE MIGUEL, C., OJEDA, E., GIL, S., COLL, M. & ALFONSO, P. 2016. New mutation described in a young woman with splenomegaly, diagnosed with Niemann-Pick disease type C. Medicina Clínica 2016: 22.
LÓPEZ, M., KLEIN, A., DIMBIL, U. & SCOTT, M. 2011. Anatomically defined neuron-based rescue of neurodegenerative Niemann-Pick type C disorder. The Journal of neuroscience 31(12): 4367-4378.
LOURENCO, C., TIMM, F., GIUGLIANI, R. & MARQUES, W. 2012. Niemann- Pick Type C in Brazil: Natural History and Clinical Course in 42 Patients. Molecular Genetics and Metabolism 105(2): 44.
LORENZONI, P., CARDOSO, E., CRIPPA, A., LOURENÇO, C., SOUZA, F., GIUGLIANI, R., SARAIVA-PEREIRA, M., RASKIN, S., BRUCK, I., KAY, C., SCOLA, R., WERNECK, L. & TEIVE, H. 2014. Niemann-Pick disease type C: a case series of Brazilian patients. Arquivos de neuro-psiquiatria 72(3): 214-218.
MACÍAS-VIDAL, J., RODRÍGUEZ-PASCAU, L., S´ANCHEZ-OLL´E, G., LLUCH, M., VILAGELIU, L., GRINBERG, D. & COLL, M. 2011. Molecular analysis of 30 Niemann–Pick type C patients from Spain. Clinical Genetics 80: 39–49.
MAILMAN, T., HARIHARAN, M. & KARTEN, B. 2011. Inhibition of neuronal cholesterol biosynthesis with lovastatin leads to impaired synaptic vesicle release even in the presence of lipoproteins or geranylgeraniol. Journal of neurochemistry 119(5): 1002-1015.
MANSON, M., COREY, D., BEDERMAN, I., BURGESS, J. & KELLEY, T. 2012. Regulatory role of
AL-DAGHRI, N., CAGLIANI, R., FORNI, D., ALOKAIL, M., POZZOLI, U., ALKHARFY, K., SABICO, S., CLERICI, M. & SIRONI, M. 2012. Mammalian NPC1 genes may undergo positive selection and human polymorphisms associate with type 2 diabetes. BMC Medicine 10: 140.
BAUER, P., KNOBLICH, R., BAUER, C., FINCKH, U., HUFEN, A., KROPP, J., BRAUN, S., KUSTERMANN-KUHN, B., SCHMIDT, D., HARZER, K. & ROLFS, A. 2002. NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes. Human Mutation 19(1): 30-38.
BLANCHETTE-MACKIE, E., DWYER, N., AMENDE, L., KRUTH, H., BUTLER, J., SOKOL, J., COMLY, M., VANI|ER, M., AUGUST, J. & BRADY, R. 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. Proceedings of the National Academy of Sciences of the United States of America 85(21): 8022-8026.
BUTLER, J., COMLY, M., KRUTH, H., VANIER, M., FILLING-KATZ, M., FINK, J., BARTON, N., WEINTROUB, H., QUIRK, J. & TOKORO, T. 1987. Niemann-pick variant disorders: comparison of errors of cellular cholesterol homeostasis in group D and group C fibroblasts. Proceedings of the National Academy of Sciences of the United States of America 84(2): 556-560.
CARDOSO, M., CHAVES, P. & COSTA, C. 2011. Niemann Pick type C in adult patients: results evaluation of miglustat therapy. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Journal of Inherited Metabolic Disease 34(3): 49-286.
DIERKS, T., SCHLOTAWA, L., FRESE, M., RADHAKRISHNAN, K., VON, K. & SCHMIDT, B. 2009. Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann Pick C1 disease Lysosomal storage disorders caused by defects of non-lysosomal proteins. Biochim Biophys Acta 1793(4): 710-725.
FERNÁNDEZ, E., BALLART, A., ITURRIAGA, C., LLUCH, M., MACIAS, J., VANER, M. & PINEDA, M. 2005. Identification of 25 new mutations in 40 unrelated Spanish Niemann Pick type C patients: genotype-phenotype correlations. Instituto de Bioquímica Clínica. Corporación Sanitaria. Clinical Genetics 68(3): 245-54.
FORBES, D., PORTER, D., SCHERRER, M., LANIER, S., JOSHUA, L., VASUMATHI, M., GALE, S., OLZESKI, D., SIDHU, R., DIETZEN, D. J., FU, R., WASSIF, C. A., YANJANIN, N. M., MARSO, S. P., HOUSE, J., VITE, C.,
SCHAFFER, J. E. & ORY, D. S. 2010. Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease. Science Translational Medicine 2(56): 9-22
FROLOV, A., ZIELINSKI, S., CROWLEY, J., DUDLEY-RUCKER, N., SCHAFFER, J. & ORY, D. 2003. NPC1 and NPC2 regulate cellular cholesterol homeostasis through generation of low density lipoprotein cholesterol derived oxysterols. The Journal of biological chemistry 278(28): 25517-25525.
GARVER, W. 2007. The National Niemann Pick C1 database: report of clinical features and health problems. Journal American Journal of Medical Genetics Part A 143: 1204-1211.
GIESE, A., MASCHER, H., GRITTNER, U., EICHLER, S., KRAMP, G., LUKAS, J., TE VRUCHTE, D., AL EISA, N., CORTINA-BORJA, M., PORTER, F., PLATT, F. & ROLFS, A. 2015. A novel, highly sensitive and specific biomarker for Niemann–Pick type C1 disease. Orphanet Journal of Rare Diseases 10(78): 5-8
GOLDMAN, S. & KRISE, J. 2010. Niemann Pick C1 functions independently of Niemann Pick C2 in the initial stage of retrograde transport of membrane impermeable lysosomal cargo. The Journal of biological chemistry 285(7): 4983-4994
GUO, Y., LI, W., WU, R., XIE, Q., ZHANG, Z. & CUI, L. 2008. Niemann Pick type C1 protein influences the delivery of cholesterol to the SREBP: SCAP complex. Brazilian journal of medical and biological research 41(1): 26-33.
IMRIE , J., DASGUPTA, S., BESLEY, G., HARRIS, C., HEPTINSTALL, L., KNIGHT, S., VANIER, M., FENSOM, A., WARD, C., JACKLIN, E., WHITEHOUSE, C. & WRAITH, J. 2007. The natural history of Niemann–Pick
disease type C in the UK. Journal of Inherited Metabolic Disease 30(1): 51-59.
IMRIE, J., HEPTINSTALL, L., KNIGHT, S., & STRONG, K. 2015. Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database. BMC Neurology 257: 1-23.
KRUTH, H. 1984. Histochemical detection of esterified cholesterol within human atherosclerotic lesions using the fluorescent probe filipin. Atherosclerosis 51(2-3): 281-292.
KRUTH, H. 1987. Accumulation of unesterified cholesterol in limbal cornea and conjunctiva of rabbits fed a high-cholesterol diet. Detection with filipin. Atherosclerosis 63(1): 1–6.
LARIO, A., DE MIGUEL, C., OJEDA, E., GIL, S., COLL, M. & ALFONSO, P. 2016. New mutation described in a young woman with splenomegaly, diagnosed with Niemann-Pick disease type C. Medicina Clínica 2016: 22.
LÓPEZ, M., KLEIN, A., DIMBIL, U. & SCOTT, M. 2011. Anatomically defined neuron-based rescue of neurodegenerative Niemann-Pick type C disorder. The Journal of neuroscience 31(12): 4367-4378.
LOURENCO, C., TIMM, F., GIUGLIANI, R. & MARQUES, W. 2012. Niemann- Pick Type C in Brazil: Natural History and Clinical Course in 42 Patients. Molecular Genetics and Metabolism 105(2): 44.
LORENZONI, P., CARDOSO, E., CRIPPA, A., LOURENÇO, C., SOUZA, F., GIUGLIANI, R., SARAIVA-PEREIRA, M., RASKIN, S., BRUCK, I., KAY, C., SCOLA, R., WERNECK, L. & TEIVE, H. 2014. Niemann-Pick disease type C: a case series of Brazilian patients. Arquivos de neuro-psiquiatria 72(3): 214-218.
MACÍAS-VIDAL, J., RODRÍGUEZ-PASCAU, L., S´ANCHEZ-OLL´E, G., LLUCH, M., VILAGELIU, L., GRINBERG, D. & COLL, M. 2011. Molecular analysis of 30 Niemann–Pick type C patients from Spain. Clinical Genetics 80: 39–49.
MAILMAN, T., HARIHARAN, M. & KARTEN, B. 2011. Inhibition of neuronal cholesterol biosynthesis with lovastatin leads to impaired synaptic vesicle release even in the presence of lipoproteins or geranylgeraniol. Journal of neurochemistry 119(5): 1002-1015.
MANSON, M., COREY, D., BEDERMAN, I., BURGESS, J. & KELLEY, T. 2012. Regulatory role of
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Publicado
2016-10-24
Cómo citar
Pardo Echeverría, L. C. (2016). Aproximación teórica para la enfermedad de Niemann Pick Tipo C. Cultura Científica, (14), 82–90. Recuperado a partir de https://jdc-ojs.vobomkt.com/index.php/Cult_cient/article/view/41
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