Diagnóstico bioquímico positivo en pacientes con sospecha clínica de Niemann Pick C. / Positive Biochemical Diagnosis in Patients with Clinical Suspicion of Niemann Pick C.
Agencias de apoyo
A la Maestría en Ciencias Biológicas de la Universidad Pedagógica y Tecnológica de Colombia (UPTC), Centro de investigación GENETIX, ONG Caminando Juntos, Marie T. Vanier PhD y a todas aquellas personas y entidades que brindaron su colaboración para el de
Resumen
Resumen
Se realizó tinción de Filipin a partir de cultivos de fibroblastos, provenientes de biopsias de piel de 73 pacientes candidatos clínicamente de padecer la enfermedad neurodegenerativa de herencia autosómica recesiva de Niemann Pick C, remitidos por los servicios de neurología y genética del país. Mediante análisis cualitativo de intensidad de fluorescencia perinuclear, se reportó un diagnóstico bioquímico positivo en 23 pacientes. La prueba t permitió inferir que no existen diferencias estadísticamente significativas en relación a la edad y el género de los pacientes.
Abstract
Filipin staining test was made from cultured fibroblasts from skin biopsies from 73 patients clinically
candidates of developing the neurodegenerative disease autosomal recessive Niemann Pick C, referred by the neurology and genetics in the country. Qualitative analysis by perinuclear fluorescence intensity, the positive biochemical diagnosis was identified in 23 patients. The t test allowed inferring that not statistically significant differences in relation to age (1->45 years) and gender of patients.
Palabras clave
Depósito lisosomal, lipoproteínas de baja densidad-LDL, lisis celular, Niemann Pick C, neurodegenerativa, tinción de Filipin, transporte intracelular de lípidos.
Biografía del autor/a
LIZ CAROLINA PARDO ECHEVERRIA
Localizadad: Usaquen, Distrito Capital.
Referencias
- X. Sun, D. L. Marks, D. L., Park, C. L. Wheatley, V. Puri, J. F. O’Brien, K. Snow. “Niemann-Pick C Variant Detection by Altered Sphingolipid Trafficking and Correlation with Mutations within a Specific Domain of NPC1”. Am. J. Human Genet., vol. 68, no. 6, pp. 1361-1372, June, 2001. DOI: https://doi.org/10.1086/320599
- W. S. Garver, D. Jelinek, F. J. Meaney, J. Flynn, K. M. Pettit, G. Shepherd, G. A. Francis. “The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes”. J. Lipid Res., vol. 51, no. 2, pp. 406-415, February 2010. DOI: https://doi.org/10.1194/jlr.P000331
- P. Marc. “Niemann-Pick Disease Type C. Synonym: Juvenile Niemann-Pick Disease”. In Gene Reviews, R. A. Pagon, .M. P. Adam, H. H. Ardinger, S. E. Wallace, A. Amemiya, L. J. Bean, T. D. Bird, C. T. Fong, H. C. Mefford, R. J. Smith, K. Stephens, Ed. Universidad de
- Washington, Seatlle, 2012, pp. 1-30.
- M. T. Vanier, P. Latour. “Laboratory diagnosis of Niemann Pick disease type C: The filipin staining test”. In Lysosomes and lisosomal diseases. Methods in Cell Biology, Ed. FrancesPlatt and Nick Platt, Lyon, France, vol. 126, 2015, pp. 357-375.
- M. Patterson, C. Hendriksz, M. Walterfang, F. Sedel, M. T. Vanier, F. Wijburg. “Recommendations for the diagnosis and management of Niemann Pick disease type C: an update”. Mol. Genet. Metab., vol. 106, no. 3, pp. pp. 357-375, July, 2012. DOI: https://doi.org/10.1016/j.ymgme.2012.03.012
- E. Fernández, A. Ballart, C. Iturriaga, M. Lluch, J. Macias, M. T. Vanier, M. Pineda. “Identification of 25 new mutations in 40 unrelated Spanish Niemann Pick type C patients: genotypephenotype correlations”. Clin. Genet., vol. 68, no. 3, pp. 245-254, September, 2005. DOI: https://doi.org/10.1111/j.1399-0004.2005.00490.x
- W. Garver, G. Francis, D. Jelinek, G. Shepherd, J. Flynn, G. Castro, C. Walsh Vockley, Coppock, K. Pettit, R. Heidenreich, F. Meaney. The National Niemann Pick C1 database: report of clinical features and health problems. Am. J. Med. Genet. A, vol. 143A, no. 11, pp. 1204-1211, June 2007. DOI: https://doi.org/10.1002/ajmg.a.31735
- F. A. Wijburg, F. Sedel, M. Pineda, C. J. Hendriksz, M. Fahey, M. Walterfang, M. C. Patterson, J. E. Wraith, S. A. Kolb. “Development of a suspicion index to aid diagnosis of Niemann Pick disease type C. Neurology, vol. 78, no. 20, pp. 1560-1567, May, 2012.
- E. Mengel, H. Klünemann, C. M. Lourenço, C. J. Hendriksz, F. Sedel, M. Walterfang, S. A. Kolb. “Niemann-Pick disease type C symptomatology: an expert based clinical description”. Orphanet J. Rare Dis., vol. 8, no. 1, pp.166, October 2013. DOI: https://doi.org/10.1186/1750-1172-8-166
- M.T. Vanier, D. A. Wenger, M. E. Comly, R. Rousson, R. O. Brady, P. G. Pentchev. “Niemann Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: a collaborative study on 70 patients”. Clin. Genet., vol. 33, no. 5, pp. 331-348, May, 1988. DOI: https://doi.org/10.1111/j.1399-0004.1988.tb03460.x
- M. T. Vanier. Laboratory diagnosis of Niemann- Pick disease type C: “The filipin staining test”. In Methods in Cell Biology, Lyon, France. Capitule 18, vol. 126, 2015. DOI: https://doi.org/10.1016/bs.mcb.2014.10.028
- J. E. Vance, B. Karten B. “Niemann Pick C disease and mobilization of lysosomal cholesterol by cyclodextrin”. J. Lipid Res., vol. 55, no. 8, pp. 1609-1621, March, 2014. DOI: https://doi.org/10.1194/jlr.R047837
- S. D. Goldman, J. P. Krise. “Niemann Pick C1 functions independently of Niemann Pick C2 in the initial stage of retrograde transport of membrane impermeable lysosomal cargo”. J. Biol. Chem., vol. 285, no. 7, pp. 4983-4994, February, 2010. DOI: https://doi.org/10.1074/jbc.M109.037622
- M. E. López, A. D. Klein, U. J. Dimbil, M. P. Scott. “Anatomically defined neuron-based rescue of neurodegenerative Niemann-Pick type
- C disorder”. J. Neurosci., vol. 31, no. 12, pp. 4367-4378, March 2011. DOI: https://doi.org/10.1523/JNEUROSCI.5981-10.2011
- E. J. Blanchette-Mackie, N. K. Dwyer, L. M. Amende, H. S. Kruth, J. D. Butler, J. Sokol, M. E. Comly, M. T. Vanier, J. T. August, R. O. Brady. “Type-C Niemann-Pick disease: Lowdensity lipoprotein uptake is associated with premature cholesterol accumulation in the Golgi
- complex and excessive cholesterol storage in lysosomes”. Proc. Natl. Acad. Sci. USA., vol. 85, no. 21, pp. 8022-8026, November, 1988. DOI: https://doi.org/10.1073/pnas.85.21.8022
- H. S. Kruth. “Histochemical detection of esterified cholesterol within human atherosclerotic lesions using the fluorescent probe filipin”. Atherosclerosis, vol. 51, no. 2-3, pp. 281-292, May-June, 1984. DOI: https://doi.org/10.1016/0021-9150(84)90175-8
- H. S. Kruth. “Accumulation of unesterified cholesterol in limbal cornea and conjunctiva of rabbits fed a high-cholesterol diet. Detection with filipin”. Atherosclerosis; vol. 63, no.1, pp: 1-6, January, 1987. DOI: https://doi.org/10.1016/0021-9150(87)90075-X
- F. A. Wijburg, F. Sedel, M. Pineda, C. J. Hendriksz, M. Fahey, M. Walterfang, M. C. Patterson, J. E. Wraith, S. A. Kolb. “Development of a suspicion index to aid diagnosis of Niemann- Pick disease type C”. Neurology, vol. 78, no. 20, pp. 1560-1567, May, 2012. DOI: https://doi.org/10.1212/WNL.0b013e3182563b82
- M. C. Vázquez, E. Balboa, A. R. Álvarez, S. Zanlungo. “Oxidative stress: a pathogenic mechanism for Niemann Pick type C disease”.
- Oxid. Med. Cell Longev., vol. 2012, no. 2012, pp. 205-713, June, 2012.
- V. M. Rimkunas, M. J. Graham, R. M. Crooke, L. Liscum. “In vivo antisense oligonucleotide reduction of NPC1 expression as a novel mouse model for Niemann Pick type C associated liver disease”. Hepatology, vol. 47, no. 5, pp. 1504- 1512, May, 2008. DOI: https://doi.org/10.1002/hep.22327
- A. Frolov, S. E. Zielinski, J. R. Crowley, N. Dudley-Rucker, J. E. Schaffer, D. S. Ory D. “NPC1 and NPC2 regulate cellular cholesterol
- homeostasis through generation of low density lipoprotein cholesterol derived oxysterols”. J. Biol. Chem., vol. 278, no. 28, pp. 25517-25525, July, 2003. DOI: https://doi.org/10.1074/jbc.M302588200
- O. Sepulveda, Z. Suarez, M. Patarroyo, L. Canaria, S. Bautista, “Estudio del comportamiento e impacto de la climatología sobre el cultivo de la papa y del paso en la región central de Boyacá empleando los sistemas dinámicos”, Ciencia en Desarrollo, vol. 6, no. 2, pp. 215- 224, 2015. DOI: https://doi.org/10.19053/01217488.3792
Descargas
Los datos de descargas todavía no están disponibles.