Estandarización y estudio preliminar de valores de referencia de Arilsulfatasa A en muestras de sangre en papel filtro
Este estudio presenta un rango preliminar de los valores de la actividad enzimática de la arilsulfatasa A en DBS con un sustrato fluorescente. Se espera pueda servir en el futuro para establecer un rango poblacional para tamizaje en DBS de Leucodistrofia Metacromática en Colombia.
- Autores:
-
Correal Bohórquez, Juan Felipe
- Tipo de recurso:
- Trabajo de grado de pregrado
- Fecha de publicación:
- 2022
- Institución:
- Universidad de los Andes
- Repositorio:
- Séneca: repositorio Uniandes
- Idioma:
- spa
- OAI Identifier:
- oai:repositorio.uniandes.edu.co:1992/58164
- Acceso en línea:
- http://hdl.handle.net/1992/58164
- Palabra clave:
- Enfermedades lisosomales
DBS
Fluorescencia
Arilsulfatasa A
Leucodistrofia
Metacromática
Tamizaje poblacional
Cerebrósido-Sulfatasa
Leucodistrofia metacromática
Enfermedades por almacenamiento lisosomal
Enfermedades de la sangre
Lisosomas
Tamizaje genético
Microbiología
- Rights
- openAccess
- License
- Attribution-NoDerivatives 4.0 Internacional
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Estandarización y estudio preliminar de valores de referencia de Arilsulfatasa A en muestras de sangre en papel filtro |
| title |
Estandarización y estudio preliminar de valores de referencia de Arilsulfatasa A en muestras de sangre en papel filtro |
| spellingShingle |
Estandarización y estudio preliminar de valores de referencia de Arilsulfatasa A en muestras de sangre en papel filtro Enfermedades lisosomales DBS Fluorescencia Arilsulfatasa A Leucodistrofia Metacromática Tamizaje poblacional Cerebrósido-Sulfatasa Leucodistrofia metacromática Enfermedades por almacenamiento lisosomal Enfermedades de la sangre Lisosomas Tamizaje genético Microbiología |
| title_short |
Estandarización y estudio preliminar de valores de referencia de Arilsulfatasa A en muestras de sangre en papel filtro |
| title_full |
Estandarización y estudio preliminar de valores de referencia de Arilsulfatasa A en muestras de sangre en papel filtro |
| title_fullStr |
Estandarización y estudio preliminar de valores de referencia de Arilsulfatasa A en muestras de sangre en papel filtro |
| title_full_unstemmed |
Estandarización y estudio preliminar de valores de referencia de Arilsulfatasa A en muestras de sangre en papel filtro |
| title_sort |
Estandarización y estudio preliminar de valores de referencia de Arilsulfatasa A en muestras de sangre en papel filtro |
| dc.creator.fl_str_mv |
Correal Bohórquez, Juan Felipe |
| dc.contributor.advisor.none.fl_str_mv |
Uribe Ardila, Jesús Alfredo |
| dc.contributor.author.none.fl_str_mv |
Correal Bohórquez, Juan Felipe |
| dc.contributor.jury.none.fl_str_mv |
Uribe Ardila, Jesús Alfredo |
| dc.contributor.researchgroup.es_CO.fl_str_mv |
Centro de Investigaciones en Bioquímica |
| dc.subject.keyword.none.fl_str_mv |
Enfermedades lisosomales DBS Fluorescencia Arilsulfatasa A Leucodistrofia Metacromática Tamizaje poblacional |
| topic |
Enfermedades lisosomales DBS Fluorescencia Arilsulfatasa A Leucodistrofia Metacromática Tamizaje poblacional Cerebrósido-Sulfatasa Leucodistrofia metacromática Enfermedades por almacenamiento lisosomal Enfermedades de la sangre Lisosomas Tamizaje genético Microbiología |
| dc.subject.armarc.none.fl_str_mv |
Cerebrósido-Sulfatasa Leucodistrofia metacromática Enfermedades por almacenamiento lisosomal Enfermedades de la sangre Lisosomas Tamizaje genético |
| dc.subject.themes.es_CO.fl_str_mv |
Microbiología |
| description |
Este estudio presenta un rango preliminar de los valores de la actividad enzimática de la arilsulfatasa A en DBS con un sustrato fluorescente. Se espera pueda servir en el futuro para establecer un rango poblacional para tamizaje en DBS de Leucodistrofia Metacromática en Colombia. |
| publishDate |
2022 |
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2022-06-22T18:26:29Z |
| dc.date.available.none.fl_str_mv |
2022-06-22T18:26:29Z |
| dc.date.issued.none.fl_str_mv |
2022-06-21 |
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Trabajo de grado - Pregrado |
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info:eu-repo/semantics/bachelorThesis |
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info:eu-repo/semantics/acceptedVersion |
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Austin, J., Mc Afee, Donald, & Shearer, Leslie. (1965). Metachromatic Form of Diffuse Cerebral Sclerosis: IV. Low Sulfatase Activity In the Urine Of Nine Living Patients With Metachromatic Lcukodystrophy (MLD). Archives of Neurology, 12(5), 447. https://doi.org/10.1001/archneur.1965.00460290003001 Austin, J., McAfee, D., Armstrong, D., O'Rouirke, M., Shearer, L., Bachhawat, B., & Bowman, R. H. (1964). Abnormal Sulphatase Activities in Two Human Diseases (Metachromatic Leucodystrophy and Gargoylism). Biochemical Journal, 93(2), 15C-17C. https://doi.org/10.1042/bj0930015C Bakhru-Kishore, R., & Kelly, S. (1977). A microfluorometric assay of the lysosomal arylsulfatases in leukocytes. Clinica Chimica Acta, 75(3), 483-485. https://doi.org/10.1016/0009-8981(77)90369-2 Baum, H., Dodgson, K. S., & Spencer, B. (1959). The assay of arylsulphatases A and B in human urine. Clinica Chimica Acta, 4 Begley, D., Pontikis, C., & Scarpa, M. (2008). Lysosomal Storage Diseases and the Blood-Brain Barrier. Current Pharmaceutical Design, 14(16), 1566-1580. https://doi.org/10.2174/138161208784705504 Boelens, J. J. (2006). Trends in haematopoietic cell transplantation for inborn errors of metabolism. Journal of Inherited Metabolic Disease, 29(2-3), 413-420. https://doi.org/10.1007/s10545-005-0258-8 Bostick, W. D., Dinsmore, S. R., Mrochek, J. E., & Waalkes, T. P. (1978). Separation and analysis of arylsulfatase isoenzymes in body fluids of man. Clinical Chemistry, 24(8), 1305-1316. Chamoles, N. A., Blanco, M. B., Gaggioli, D., & Casentini, C. (2001). Hurler-like Phenotype. Clinical Chemistry, 47(12), 2098-2102. https://doi.org/10.1093/clinchem/47.12.2098 Christomanou, H., & Sandhoff, K. (1977). A sensitive fluorescence assay for the simultaneous and separate determination of arylsulphatases A and B. Clinica Chimica Acta, 79(3), 527-531. https://doi.org/10.1016/0009-8981(77)90172-3 Di Ferrante, N., Nichols, B. L., Donnelly, P. V., Neri, G., Hrgovcic, R., & Berglund, R. K. (1971). Induced Degradation of Glycosaminoglycans in Hurler's and Hunter's Syndromes by Plasma Infusion. Proceedings of the National Academy of Sciences, 68(2), 303-307. https://doi.org/10.1073/pnas.68.2.303 Eckhardt, M. (2008). The Role and Metabolism of Sulfatide in the Nervous System. Molecular Neurobiology, 37(2-3), 93-103. https://doi.org/10.1007/s12035-008-8022-3 Fratantoni, J. C., Hall, C. W., & Neufeld, E. F. (1969). THE DEFECT IN HURLER AND HUNTER SYNDROMES, II. DEFICIENCY OF SPECIFIC FACTORS INVOLVED IN MUCOPOLYSACCHARIDE DEGRADATION. Proceedings of the National Academy of Sciences, 64(1), 360-366. https://doi.org/10.1073/pnas.64.1.360 Greenfield, J. G. (1933). A Form of Progressive Cerebral Sclerosis in Infants associated with Primary Degeneration of the Interfascicular Glia. Proceedings of the Royal Society of Medicine, 26(6), 690-697. Hobbs, J. (1981). REVERSAL OF CLINICAL FEATURES OF HURLER'S DISEASE AND BIOCHEMICAL IMPROVEMENT AFTER TREATMENT BY BONE-MARROW TRANSPLANTATION. The Lancet, 318(8249), 709-712. https://doi.org/10.1016/S0140-6736(81)91046-1 Hong, X., Daiker, J., Sadilek, M., Ruiz-Schultz, N., Kumar, A. B., Norcross, S., Dansithong, W., Suhr, T., Escolar, M. L., Ronald Scott, C., Rohrwasser, A., & Gelb, M. H. (2021). Toward newborn screening of metachromatic leukodystrophy: Results from analysis of over 27,000 newborn dried blood spots. Genetics in Medicine, 23(3), 555-561. https://doi.org/10.1038/s41436-020-01017-5 Kampine, J. P., Bardy, R. O., Kanfer, J. N., Feld, M., & Shapiro, D. (1967). Diagnosis of Gaucher's Disease and Niemann-Pick Disease with Small Samples of Venous Blood. Science, 155(3758), 86-88. https://doi.org/10.1126/science.155.3758.86 Knudson, A. G., Ferrante, N. D., & Curtis, J. E. (1971). Effect of Leukocyte Transfusion in a Child with Type II Mucopolysaccharidosis. Proceedings of the National Academy of Sciences, 68(8), 1738-1741. https://doi.org/10.1073/pnas.68.8.1738 Lukatela, G., Krauss, N., Theis, K., Selmer, T., Gieselmann, V., von Figura, K., & Saenger, W. (1998). Crystal Structure of Human Arylsulfatase A: The Aldehyde Function and the Metal Ion at the Active Site Suggest a Novel Mechanism for Sulfate Ester Hydrolysis ,. Biochemistry, 37(11), 3654-3664. https://doi.org/10.1021/bi9714924 Percy, A. K., & Brady, R. O. (1968). Metachromatic Leukodystrophy: Diagnosis with Samples of Venous Blood. Science, 161(3841), 594-595. https://doi.org/10.1126/science.161.3841.594 Platt, F. M., d¿Azzo, A., Davidson, B. L., Neufeld, E. F., & Tifft, C. J. (2018). Lysosomal storage diseases. Nature Reviews Disease Primers, 4(1), 27. https://doi.org/10.1038/s41572-018-0025-4 Shaimardanova, A. A., Chulpanova, D. S., Solovyeva, V. V., Mullagulova, A. I., Kitaeva, K. V., Allegrucci, C., & Rizvanov, A. A. (2020). Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches. Frontiers in Medicine, 7, 576221. https://doi.org/10.3389/fmed.2020.576221 Takahashi, T., & Suzuki, T. (2012). Role of sulfatide in normal and pathological cells and tissues. Journal of Lipid Research, 53(8), 1437-1450. https://doi.org/10.1194/jlr.R026682 Uribe, A., & Giugliani, R. (2013). Selective Screening for Lysosomal Storage Diseases with Dried Blood Spots Collected on Filter Paper in 4,700 High-Risk Colombian Subjects. En J. Zschocke, K. M. Gibson, G. Brown, E. Morava, & V. Peters (Eds.), JIMD Reports Volume 11 (Vol. 11, pp. 107-116). Springer Berlin Heidelberg. https://doi.org/10.1007/8904_2013_229 Valayannopoulos, V. (2013). Enzyme replacement therapy and substrate reduction therapy in lysosomal storage disorders with neurological expression. En Handbook of Clinical Neurology (Vol. 113, pp. 1851-1857). Elsevier. https://doi.org/10.1016/B978-0-444-59565-2.00055-1 Van Bogaert, L., & Dewulf, André. (1939). DIFFUSE PROGRESSIVE LEUKODYSTROPHY IN THE ADULT: WITH PRODUCTION OF METACHROMATIC DEGENERATIVE PRODUCTS (ALZHEIMER-BARONCINI). Archives of Neurology & Psychiatry, 42(6), 1083. https://doi.org/10.1001/archneurpsyc.1939.02270240121009 van Rappard, D. F., Boelens, J. J., & Wolf, N. I. (2015). Metachromatic leukodystrophy: Disease spectrum and approaches for treatment. Best Practice & Research Clinical Endocrinology & Metabolism, 29(2), 261-273. https://doi.org/10.1016/j.beem.2014.10.001 |
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Attribution-NoDerivatives 4.0 Internacionalhttp://creativecommons.org/licenses/by-nd/4.0/info:eu-repo/semantics/openAccesshttp://purl.org/coar/access_right/c_abf2Uribe Ardila, Jesús Alfredo790005c5-eeeb-4f5d-8e03-cfb643f808ab600Correal Bohórquez, Juan Feliped981bd4b-5f55-4275-b02f-9674932dc19b600Uribe Ardila, Jesús AlfredoCentro de Investigaciones en Bioquímica2022-06-22T18:26:29Z2022-06-22T18:26:29Z2022-06-21http://hdl.handle.net/1992/58164instname:Universidad de los Andesreponame:Repositorio Institucional Sénecarepourl:https://repositorio.uniandes.edu.co/Este estudio presenta un rango preliminar de los valores de la actividad enzimática de la arilsulfatasa A en DBS con un sustrato fluorescente. Se espera pueda servir en el futuro para establecer un rango poblacional para tamizaje en DBS de Leucodistrofia Metacromática en Colombia.La Arilsulfatasa A (ASA) es una sulfatasa lisosomal encargada del catabolismo del sulfatido, este es uno de los esfingolípidos principales de la mielina y se encuentra en grandes proporciones en los oligodendrocitos y las células de Schwann. La deficiencia de la ASA ocasiona la acumulación intralisosomal del sulfatido, lo que se desencadena una respuesta inflamatoria y la muerte celular dando lugar a la Leucodistrofia Metacromática. Esta enfermedad es neurodegenerativa y no tiene cura hasta el momento, aunque algunos tratamientos experimentales con terapia génica y terapia génica celular han resultado exitosos. El diagnóstico se realiza a partir de imágenes de resonancia magnética, que detectan demielinación y daño celular; pruebas genéticas que detectan las mutaciones responsables de la deficiencia enzimática; y pruebas bioquímicas que detectan un aumento en los niveles del sulfatido en orina o deficiencia de la actividad enzimática de ASA en suero, leucocitos y fibroblastos. Una prueba bioquímica reciente para realizar tamizajes poblacionales es técnica DBS (Dried Blood Spots), que no requiere cadena de frío y utiliza una menor cantidad de muestra y reactivos que las pruebas bioquímicas tradicionales. En este proyecto se logró estandarizar un protocolo de detección de la actividad enzimática de ASA con un sustrato fluorescente y posteriormente se estableció un rango preliminar de referencia en individuos sanos para población colombiana, a partir de los datos de 87 controles sanos y un individuo afectado con la enfermedad.Arylsulfatase A (ASA) is a lysosomal sulfatase involved in sulfatide catabolism. Sulfatide is a sphingolipid which is one of the main components of myelin, it is found mostly in oligodendrocytes and Schwann cells. ASA deficiency causes intralysosomal sulfatide accumulation which triggers inflammatory response and cell death resulting in the development of Metachromatic Leukodystrophy. There is not a precise cure for the decease nowadays, nevertheless some experimental gene therapy and gene cell therapy have shown promising successful results. Diagnostic is based in magnetic resonance images, which precisely show demyelination and brain damage; genetics tests which detect the mutations responsible for the enzymatic deficiency; and biochemical methods which detect increased sulfatide levels in urine or enzymatic activity deficiency in serum, blood, or fibroblasts. A recent biochemical test used for selective screening in a large number of samples is the technique DBS (Dried Blood Spots); this technique needs no cold chain and it requires less amount of sample and reactives than traditional biochemical tests. This project successfully detected ASA enzymatic activity in DBS samples with a fluorescent substrate, after that a preliminary range was stablished for the enzymatic activity value in healthy controls for colombian population, the data was obtained from 87 healthy individuals and one patient.MicrobiólogoPregradoEnfermedades lisosomales44 páginasapplication/pdfspaUniversidad de los AndesMicrobiologíaFacultad de CienciasDepartamento de Ciencias BiológicasEstandarización y estudio preliminar de valores de referencia de Arilsulfatasa A en muestras de sangre en papel filtroTrabajo de grado - Pregradoinfo:eu-repo/semantics/bachelorThesisinfo:eu-repo/semantics/acceptedVersionhttp://purl.org/coar/resource_type/c_7a1fTexthttp://purl.org/redcol/resource_type/TPEnfermedades lisosomalesDBSFluorescenciaArilsulfatasa ALeucodistrofiaMetacromáticaTamizaje poblacionalCerebrósido-SulfatasaLeucodistrofia metacromáticaEnfermedades por almacenamiento lisosomalEnfermedades de la sangreLisosomasTamizaje genéticoMicrobiologíaAustin, J., Mc Afee, Donald, & Shearer, Leslie. (1965). Metachromatic Form of Diffuse Cerebral Sclerosis: IV. Low Sulfatase Activity In the Urine Of Nine Living Patients With Metachromatic Lcukodystrophy (MLD). Archives of Neurology, 12(5), 447. https://doi.org/10.1001/archneur.1965.00460290003001Austin, J., McAfee, D., Armstrong, D., O'Rouirke, M., Shearer, L., Bachhawat, B., & Bowman, R. H. (1964). Abnormal Sulphatase Activities in Two Human Diseases (Metachromatic Leucodystrophy and Gargoylism). Biochemical Journal, 93(2), 15C-17C. https://doi.org/10.1042/bj0930015CBakhru-Kishore, R., & Kelly, S. (1977). A microfluorometric assay of the lysosomal arylsulfatases in leukocytes. Clinica Chimica Acta, 75(3), 483-485. https://doi.org/10.1016/0009-8981(77)90369-2Baum, H., Dodgson, K. S., & Spencer, B. (1959). The assay of arylsulphatases A and B in human urine. Clinica Chimica Acta, 4Begley, D., Pontikis, C., & Scarpa, M. (2008). Lysosomal Storage Diseases and the Blood-Brain Barrier. Current Pharmaceutical Design, 14(16), 1566-1580. https://doi.org/10.2174/138161208784705504Boelens, J. J. (2006). Trends in haematopoietic cell transplantation for inborn errors of metabolism. Journal of Inherited Metabolic Disease, 29(2-3), 413-420. https://doi.org/10.1007/s10545-005-0258-8Bostick, W. D., Dinsmore, S. R., Mrochek, J. E., & Waalkes, T. P. (1978). Separation and analysis of arylsulfatase isoenzymes in body fluids of man. Clinical Chemistry, 24(8), 1305-1316.Chamoles, N. A., Blanco, M. B., Gaggioli, D., & Casentini, C. (2001). Hurler-like Phenotype. Clinical Chemistry, 47(12), 2098-2102. https://doi.org/10.1093/clinchem/47.12.2098Christomanou, H., & Sandhoff, K. (1977). A sensitive fluorescence assay for the simultaneous and separate determination of arylsulphatases A and B. Clinica Chimica Acta, 79(3), 527-531. https://doi.org/10.1016/0009-8981(77)90172-3Di Ferrante, N., Nichols, B. L., Donnelly, P. V., Neri, G., Hrgovcic, R., & Berglund, R. K. (1971). Induced Degradation of Glycosaminoglycans in Hurler's and Hunter's Syndromes by Plasma Infusion. Proceedings of the National Academy of Sciences, 68(2), 303-307. https://doi.org/10.1073/pnas.68.2.303Eckhardt, M. (2008). The Role and Metabolism of Sulfatide in the Nervous System. Molecular Neurobiology, 37(2-3), 93-103. https://doi.org/10.1007/s12035-008-8022-3Fratantoni, J. C., Hall, C. W., & Neufeld, E. F. (1969). THE DEFECT IN HURLER AND HUNTER SYNDROMES, II. DEFICIENCY OF SPECIFIC FACTORS INVOLVED IN MUCOPOLYSACCHARIDE DEGRADATION. Proceedings of the National Academy of Sciences, 64(1), 360-366. https://doi.org/10.1073/pnas.64.1.360Greenfield, J. G. (1933). A Form of Progressive Cerebral Sclerosis in Infants associated with Primary Degeneration of the Interfascicular Glia. Proceedings of the Royal Society of Medicine, 26(6), 690-697.Hobbs, J. (1981). REVERSAL OF CLINICAL FEATURES OF HURLER'S DISEASE AND BIOCHEMICAL IMPROVEMENT AFTER TREATMENT BY BONE-MARROW TRANSPLANTATION. The Lancet, 318(8249), 709-712. https://doi.org/10.1016/S0140-6736(81)91046-1Hong, X., Daiker, J., Sadilek, M., Ruiz-Schultz, N., Kumar, A. B., Norcross, S., Dansithong, W., Suhr, T., Escolar, M. L., Ronald Scott, C., Rohrwasser, A., & Gelb, M. H. (2021). Toward newborn screening of metachromatic leukodystrophy: Results from analysis of over 27,000 newborn dried blood spots. Genetics in Medicine, 23(3), 555-561. https://doi.org/10.1038/s41436-020-01017-5Kampine, J. P., Bardy, R. O., Kanfer, J. N., Feld, M., & Shapiro, D. (1967). Diagnosis of Gaucher's Disease and Niemann-Pick Disease with Small Samples of Venous Blood. Science, 155(3758), 86-88. https://doi.org/10.1126/science.155.3758.86Knudson, A. G., Ferrante, N. D., & Curtis, J. E. (1971). Effect of Leukocyte Transfusion in a Child with Type II Mucopolysaccharidosis. 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