Estudio de la variante polimórfica 625g>a del gen de la Acil-CoA deshidrogenasa de cadena corta en una familia de Manizales.
Muestras de sangre de una familia que ha presentado dos casos de síndrome muerte súbita del lactante (SMSL), después de dos embarazos consecutivos, fueron analizadas para algunos desórdenes de la β-oxidación mitocondrial. El polimorfismo 625G>A para el gen SCAD fue identificado en dos per...
- Autores:
- Tipo de recurso:
- Fecha de publicación:
- 2012
- Institución:
- Universidad de Caldas
- Repositorio:
- Repositorio Institucional U. Caldas
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- spa
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- oai:repositorio.ucaldas.edu.co:ucaldas/23780
- Acceso en línea:
- https://repositorio.ucaldas.edu.co/handle/ucaldas/23780
https://revistasojs.ucaldas.edu.co/index.php/biosalud/article/view/5840
- Palabra clave:
- Acil-coa deshidrogenasa de cadena corta
lípidos
metabolismo
Short-chain acil-coa deshydrogenase
lipids
metabolism
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- openAccess
- License
- Revista Biosalud - 2007
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Estudio de la variante polimórfica 625g>a del gen de la Acil-CoA deshidrogenasa de cadena corta en una familia de Manizales. Study of the short-chain Acyl-CoA dehydrogenase 625g>a polymorphism in a Manizales family. |
| title |
Estudio de la variante polimórfica 625g>a del gen de la Acil-CoA deshidrogenasa de cadena corta en una familia de Manizales. |
| spellingShingle |
Estudio de la variante polimórfica 625g>a del gen de la Acil-CoA deshidrogenasa de cadena corta en una familia de Manizales. Acil-coa deshidrogenasa de cadena corta lípidos metabolismo Short-chain acil-coa deshydrogenase lipids metabolism |
| title_short |
Estudio de la variante polimórfica 625g>a del gen de la Acil-CoA deshidrogenasa de cadena corta en una familia de Manizales. |
| title_full |
Estudio de la variante polimórfica 625g>a del gen de la Acil-CoA deshidrogenasa de cadena corta en una familia de Manizales. |
| title_fullStr |
Estudio de la variante polimórfica 625g>a del gen de la Acil-CoA deshidrogenasa de cadena corta en una familia de Manizales. |
| title_full_unstemmed |
Estudio de la variante polimórfica 625g>a del gen de la Acil-CoA deshidrogenasa de cadena corta en una familia de Manizales. |
| title_sort |
Estudio de la variante polimórfica 625g>a del gen de la Acil-CoA deshidrogenasa de cadena corta en una familia de Manizales. |
| dc.subject.none.fl_str_mv |
Acil-coa deshidrogenasa de cadena corta lípidos metabolismo Short-chain acil-coa deshydrogenase lipids metabolism |
| topic |
Acil-coa deshidrogenasa de cadena corta lípidos metabolismo Short-chain acil-coa deshydrogenase lipids metabolism |
| description |
Muestras de sangre de una familia que ha presentado dos casos de síndrome muerte súbita del lactante (SMSL), después de dos embarazos consecutivos, fueron analizadas para algunos desórdenes de la β-oxidación mitocondrial. El polimorfismo 625G>A para el gen SCAD fue identificado en dos personas que son pareja y primos en primer grado, y han sido padres de dos niñas que nacieron aparentemente normales y murieron durante las primeras 24 horas sin una explicación razonable. El ADN fue amplificado por PCR y analizado por SSCP. Cuando los fragmentos de ADN fueron analizados por electroforesis en acrilamida/bisacrilamida (19:1) al 8%, gel 7.5M urea, a temperatura ambiente durante 3 horas, el polimorfismo en la posición 625 fue claramente detectado mediante coloración con nitrato de plata. Los resultados fueron confirmados por secuenciación. Después del tercer embarazo nació una niña, y luego de 6 meses se encuentra saludable. Análisis de acilcarnitinas para los padres y la tercera niña han sido normales, por eso se están realizando análisis bioquímicos y moleculares de la niña y otros familiares voluntarios, con el fin de obtener información acerca de la posible relación entre el problema de SMSL de esta familia y la presencia del polimorfismo. Sin embargo, debido a que cerca del 10-14% de la población en general son hozigotos para 625G>A o 511C> o heterozigotos compuestos para ambos, se hace necesario contar con otros indicios de que esta familia presenta la enfermedad y se necesita, además, estudiar nuestras poblaciones para conocer el porcentaje real de este polimorfismo entre nosotros, debido a que todos los estudios se han desarrollado en poblaciones caucásicas. |
| publishDate |
2012 |
| dc.date.none.fl_str_mv |
2012-07-21T00:00:00Z 2012-07-21T00:00:00Z 2012-07-21 2025-10-08T21:16:57Z 2025-10-08T21:16:57Z |
| dc.type.none.fl_str_mv |
Artículo de revista http://purl.org/coar/resource_type/c_6501 http://purl.org/coar/resource_type/c_2df8fbb1 Text info:eu-repo/semantics/article Journal article http://purl.org/redcol/resource_type/ART info:eu-repo/semantics/publishedVersion http://purl.org/coar/version/c_970fb48d4fbd8a85 |
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publishedVersion |
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1657-9550 https://repositorio.ucaldas.edu.co/handle/ucaldas/23780 2462-960X https://revistasojs.ucaldas.edu.co/index.php/biosalud/article/view/5840 |
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https://repositorio.ucaldas.edu.co/handle/ucaldas/23780 https://revistasojs.ucaldas.edu.co/index.php/biosalud/article/view/5840 |
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spa |
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spa |
| dc.relation.none.fl_str_mv |
18 11 6 Biosalud Kiehne N, Kauferstein S. Mutations in the SCN5A gene: Evidence for a link between long QT syndrome and sudden death? Forensic Sci International: Genetics 2007; 1:170-4. Byard RW. Sudden infant death syndrome. In: Sudden death in infancy, childhood and adolescence. 2nd Edition. Cambridge: Cambridge. University Press: 2004.489–575. Weese-Mayer DE, Zhou L, Berry-Kravis EM, Maher BS, Silvestri JM, Marazita ML. Association of the serotonin transporter gene with sudden infant death syndrome: a haplotype analysis. Am J Med Genet 2003; 122A:238–45. Weese-Mayer DE, Ackerman MJ, Marazita ML, Berry-Kravis EM. Sudden Infant Death Syndrome: review of implicated genetic factors. Am J Med Genet 2007; 143A:771-88. Opdal SH, Vege A, Stave AK. The complement component C4 in sudden infant death. Eur J Pediatr 1999; 158:210–12. Boles RG, Buck EA, Blitzer MG, Platt MS, Cowan TM, Martin SK, et al. Retrospective biological screening of fatty acid disorders in postmortem livers of 418 cases of sudden infant death in the first year of life. J Pediatr 1998; 132:924-33. Gustafson S, Proper JA, Bowie EJW, Sommer SS. Parameters affecting the yield of DNA from human blood. Biochemistry 1987; 165:294-99. Kristensen MJ, Kmoch S, Bross P, Andresen BS, Gregersen N. Amino acid polymorphism (Gly209Ser) in the ACADS gene. Hum Mol Genet 1994; 3:1711. Millington DS, Terada N, Chace DH, Chen YT, Ding JH, Kodo N, et al. The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders. In: Coates PM, Tanaka K (eds). New Developments in fatty acid oxidation. New York: Wiley-Liss; 1992. p.339-354. Amendt BA, Greene C, Sweetman L, Cloherty J, Shih V, Moon A, et al. Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients. J Clin Invest 1987; 79:1303–09. Corydon MJ, Vockley J, Rinaldo P, Rhead WJ, Kjeldsen M, Winter V, et al. Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res 2001; 49(1):18-23. Rhead WL, Wolff JA, Lipson M, Falace P, Desai N, Fritchman K, et al. Clinical and biochemical variation and family studies in the multiple acyl-CoA dehydrogenation disorders. Pediatr Res 1987; 21:371-76. Rinaldo P, Welch RD, Previs SF, Schmidt-Sommerfeld E, Gargus JJ, O’Shea JJ, et al. Ethylmalonic/adipic aciduria: effect of oral medium chain triglycerides, carnitine and glycine on urinary excretion of organic acids, acylcarnitines and acylglycines. Pediatr Res 1991; 30:216-21. Gregersen N, Rhead W, Christensen E. Riboflavin responsive Glutaric Aciduria type II. In: Tanaka K, Coates PM (eds) Clinical, Biochemical and Molecular Aspects of Fatty Acid Oxidation. New York: Alan R Liss; 1990. p. 477-494. Hegre CS, Halenz DR, Lane MD. The enzymatic carboxylation of butyryl-coenzyme A. J Am Chem Soc 1959; 81:6526-27. Gregersen N, Winter VS, Corydon MJ, Corydon TJ, Rinaldo P, Ribes A, et al. Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria. Hum Mol Genet 1998; 7(4):619-27. Christensen E, Brandt NJ, Schmalbruch H, Kamieniecka Z, Hertz B, Ruitenbeek W. Muscle cytochrome C oxidase deficiency accompanied by a urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 1993; 16:553-56. García-Silva MT, Ribes A, Campos Y, Garavaglia B, Arenas J. Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria. Pediatr Neurol 1997; 17(2):165-70. Tanaka K, Kean EA, Johnson B. Jamaican vomiting sickness: Biochemical investigation of two cases. New Engl J Med 1976; 295:461-67. Gregersen N, Andresen BS, Corydon MJ, Corydon TJ, Olsen RK, Bolund L, et al. Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. Hum Mutat 2001; 18(3):169-89. Nguyen TV, Riggs C, Babovic-Vuksanovic D, Kim YS, Carpenter JF, Burghardt TP, et al. Purification and characterization of two polymorphic variants of short chain acyl-CoA dehydrogenase reveal reduction of catalytic activity and stability of the Gly185Ser enzyme. Biochemistry 2002; 17:11126-133. Corydon MJ, Gregersen N, Lehnert W, Ribes A, Rinaldo P, Kmoch S, et al. Ethylmalonic aciduria is associated with an amino acid variant of short-chain acyl-coenzyme A dehydrogenase. Pediatr Res 1996; 39: 1059–1966. Sweetman L, Williams JC. Branched chain organic acidurias. In: Scriver CR, Ceaudet AL, Valle D, Sly WS (eds). The metabolic and molecular bases of inherited disease. Chapter 93. 8th. New York: McGraw Hill; 2001. Osorio JH, Pourfarzam M. Early diagnosis of neurometabolic diseases by tandem mass spectrometry. Acylcarnitine profile from cord blood. Rev Neurol 2004; 38: 111-16. Osorio JH, García F, Sánchez A. First report for 625G>A polymorphism in the short-chain acyl-coa dehydrogenase gen in South America. J Inher Metab Dis 2005; 28 Supl 1:109. , Año 2007 : Enero - Diciembre https://revistasojs.ucaldas.edu.co/index.php/biosalud/article/download/5840/5279 |
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Universidad de Caldas |
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Universidad de Caldas |
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https://revistasojs.ucaldas.edu.co/index.php/biosalud/article/view/5840 |
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Estudio de la variante polimórfica 625g>a del gen de la Acil-CoA deshidrogenasa de cadena corta en una familia de Manizales.Study of the short-chain Acyl-CoA dehydrogenase 625g>a polymorphism in a Manizales family.Acil-coa deshidrogenasa de cadena cortalípidosmetabolismoShort-chain acil-coa deshydrogenaselipidsmetabolismMuestras de sangre de una familia que ha presentado dos casos de síndrome muerte súbita del lactante (SMSL), después de dos embarazos consecutivos, fueron analizadas para algunos desórdenes de la β-oxidación mitocondrial. El polimorfismo 625G>A para el gen SCAD fue identificado en dos personas que son pareja y primos en primer grado, y han sido padres de dos niñas que nacieron aparentemente normales y murieron durante las primeras 24 horas sin una explicación razonable. El ADN fue amplificado por PCR y analizado por SSCP. Cuando los fragmentos de ADN fueron analizados por electroforesis en acrilamida/bisacrilamida (19:1) al 8%, gel 7.5M urea, a temperatura ambiente durante 3 horas, el polimorfismo en la posición 625 fue claramente detectado mediante coloración con nitrato de plata. Los resultados fueron confirmados por secuenciación. Después del tercer embarazo nació una niña, y luego de 6 meses se encuentra saludable. Análisis de acilcarnitinas para los padres y la tercera niña han sido normales, por eso se están realizando análisis bioquímicos y moleculares de la niña y otros familiares voluntarios, con el fin de obtener información acerca de la posible relación entre el problema de SMSL de esta familia y la presencia del polimorfismo. Sin embargo, debido a que cerca del 10-14% de la población en general son hozigotos para 625G>A o 511C> o heterozigotos compuestos para ambos, se hace necesario contar con otros indicios de que esta familia presenta la enfermedad y se necesita, además, estudiar nuestras poblaciones para conocer el porcentaje real de este polimorfismo entre nosotros, debido a que todos los estudios se han desarrollado en poblaciones caucásicas.Blood samples from a family who presented two cases of sudden infant death syndrome (SIDS) after two consecutive pregnancies were analysed for some inherited disorders of mitochondrial fatty acid β-oxidation. The polymorphism 625 G>A for the SCAD gene was identified in two persons who are cousins at first degree and marriage, and are the parents of two girls born apparently without problems who died after 24 hours without a reasonable explanation. The DNA analysis was performed by polymerase chain reaction (PCR) and singlestranded conformation polymorphism (SSCP) assay. When DNA fragments were subjected to electrophoresis in an 8% acrilamide/bisacrilamide (19:1), 7.5M urea gel, at room temperature for 3 hours, the single-base change at position 625 was clearly detected after silver stain. The results were confirmed by direct bidirectional cycle sequencing using DNA. After a third pregnancy a baby was born and after 6 months is still alive without problems. The acylcarnitines analysis for parents and the third baby was normal and molecular and biochemical analyses are being performed in samples from the new child and volunteer relatives of this family in order to obtain information about a possible relationship between the polymorphism and SIDS in this family. However, since about 10-14% of the general population are homozygous 625G>A or 511C>T or compound heterozygous for both it is necessary to have some other indication that they are disease-associated in this family and we need to study our populations to know the real percentage for the presence of this polymorphism as all the studies have been performed in Caucasoid populations.Universidad de Caldas2012-07-21T00:00:00Z2025-10-08T21:16:57Z2012-07-21T00:00:00Z2025-10-08T21:16:57Z2012-07-21Artículo de revistahttp://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_2df8fbb1Textinfo:eu-repo/semantics/articleJournal articlehttp://purl.org/redcol/resource_type/ARTinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/version/c_970fb48d4fbd8a85application/pdf1657-9550https://repositorio.ucaldas.edu.co/handle/ucaldas/237802462-960Xhttps://revistasojs.ucaldas.edu.co/index.php/biosalud/article/view/5840https://revistasojs.ucaldas.edu.co/index.php/biosalud/article/view/5840spa18116BiosaludKiehne N, Kauferstein S. Mutations in the SCN5A gene: Evidence for a link between long QT syndrome and sudden death? Forensic Sci International: Genetics 2007; 1:170-4.Byard RW. Sudden infant death syndrome. In: Sudden death in infancy, childhood and adolescence. 2nd Edition. Cambridge: Cambridge. University Press: 2004.489–575.Weese-Mayer DE, Zhou L, Berry-Kravis EM, Maher BS, Silvestri JM, Marazita ML. Association of the serotonin transporter gene with sudden infant death syndrome: a haplotype analysis. Am J Med Genet 2003; 122A:238–45.Weese-Mayer DE, Ackerman MJ, Marazita ML, Berry-Kravis EM. Sudden Infant Death Syndrome: review of implicated genetic factors. Am J Med Genet 2007; 143A:771-88.Opdal SH, Vege A, Stave AK. The complement component C4 in sudden infant death. Eur J Pediatr 1999; 158:210–12.Boles RG, Buck EA, Blitzer MG, Platt MS, Cowan TM, Martin SK, et al. Retrospective biological screening of fatty acid disorders in postmortem livers of 418 cases of sudden infant death in the first year of life. J Pediatr 1998; 132:924-33.Gustafson S, Proper JA, Bowie EJW, Sommer SS. Parameters affecting the yield of DNA from human blood. Biochemistry 1987; 165:294-99.Kristensen MJ, Kmoch S, Bross P, Andresen BS, Gregersen N. Amino acid polymorphism (Gly209Ser) in the ACADS gene. Hum Mol Genet 1994; 3:1711.Millington DS, Terada N, Chace DH, Chen YT, Ding JH, Kodo N, et al. The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders. In: Coates PM, Tanaka K (eds). New Developments in fatty acid oxidation. New York: Wiley-Liss; 1992. p.339-354.Amendt BA, Greene C, Sweetman L, Cloherty J, Shih V, Moon A, et al. Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients. J Clin Invest 1987; 79:1303–09.Corydon MJ, Vockley J, Rinaldo P, Rhead WJ, Kjeldsen M, Winter V, et al. Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res 2001; 49(1):18-23.Rhead WL, Wolff JA, Lipson M, Falace P, Desai N, Fritchman K, et al. Clinical and biochemical variation and family studies in the multiple acyl-CoA dehydrogenation disorders. Pediatr Res 1987; 21:371-76.Rinaldo P, Welch RD, Previs SF, Schmidt-Sommerfeld E, Gargus JJ, O’Shea JJ, et al. Ethylmalonic/adipic aciduria: effect of oral medium chain triglycerides, carnitine and glycine on urinary excretion of organic acids, acylcarnitines and acylglycines. Pediatr Res 1991; 30:216-21.Gregersen N, Rhead W, Christensen E. Riboflavin responsive Glutaric Aciduria type II. In: Tanaka K, Coates PM (eds) Clinical, Biochemical and Molecular Aspects of Fatty Acid Oxidation. New York: Alan R Liss; 1990. p. 477-494.Hegre CS, Halenz DR, Lane MD. The enzymatic carboxylation of butyryl-coenzyme A. J Am Chem Soc 1959; 81:6526-27.Gregersen N, Winter VS, Corydon MJ, Corydon TJ, Rinaldo P, Ribes A, et al. Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria. Hum Mol Genet 1998; 7(4):619-27.Christensen E, Brandt NJ, Schmalbruch H, Kamieniecka Z, Hertz B, Ruitenbeek W. Muscle cytochrome C oxidase deficiency accompanied by a urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 1993; 16:553-56.García-Silva MT, Ribes A, Campos Y, Garavaglia B, Arenas J. Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria. Pediatr Neurol 1997; 17(2):165-70.Tanaka K, Kean EA, Johnson B. Jamaican vomiting sickness: Biochemical investigation of two cases. New Engl J Med 1976; 295:461-67.Gregersen N, Andresen BS, Corydon MJ, Corydon TJ, Olsen RK, Bolund L, et al. Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. Hum Mutat 2001; 18(3):169-89.Nguyen TV, Riggs C, Babovic-Vuksanovic D, Kim YS, Carpenter JF, Burghardt TP, et al. Purification and characterization of two polymorphic variants of short chain acyl-CoA dehydrogenase reveal reduction of catalytic activity and stability of the Gly185Ser enzyme. Biochemistry 2002; 17:11126-133.Corydon MJ, Gregersen N, Lehnert W, Ribes A, Rinaldo P, Kmoch S, et al. Ethylmalonic aciduria is associated with an amino acid variant of short-chain acyl-coenzyme A dehydrogenase. Pediatr Res 1996; 39: 1059–1966.Sweetman L, Williams JC. Branched chain organic acidurias. In: Scriver CR, Ceaudet AL, Valle D, Sly WS (eds). The metabolic and molecular bases of inherited disease. Chapter 93. 8th. New York: McGraw Hill; 2001.Osorio JH, Pourfarzam M. Early diagnosis of neurometabolic diseases by tandem mass spectrometry. Acylcarnitine profile from cord blood. Rev Neurol 2004; 38: 111-16.Osorio JH, García F, Sánchez A. First report for 625G>A polymorphism in the short-chain acyl-coa dehydrogenase gen in South America. J Inher Metab Dis 2005; 28 Supl 1:109., Año 2007 : Enero - Diciembrehttps://revistasojs.ucaldas.edu.co/index.php/biosalud/article/download/5840/5279Revista Biosalud - 2007https://creativecommons.org/licenses/by-nc-sa/4.0/info:eu-repo/semantics/openAccesshttp://purl.org/coar/access_right/c_abf2Osorio, José HenryPourfarzam, Mortezaoai:repositorio.ucaldas.edu.co:ucaldas/237802025-10-08T21:16:57Z |