Titulo:
Diagnóstico de la deficiencia de Acil-CoA deshidrogenasa de cadena media mediante el uso de sustratos tritiados.
.
Sumario:
La acil-CoA deshidrogenasa de cadena media (MCAD) cataliza la primera reacción de la degradación de ácidos grasos de 10 a 12 átomos de carbono. Su deficiencia debe ser siempre confirmada por estudios de laboratorio. En el presente trabajo, fueron incubados fibroblastos de pacientes que presentaban la deficiencia de MCAD, en presencia de sustratos tritiados. Fue encontrada diferencia significativa (P<0,05) al comparar la degradación de palmitato y miristato tritiado entre controles y pacientes con deficiencia de MCAD. Se observó más deprimida la oxidación de miristato tritiado que la de palmitato tritiado.
Guardado en:
1657-9550
2462-960X
7
2022-03-17
57
61
Revista Biosalud - 2008
info:eu-repo/semantics/openAccess
http://purl.org/coar/access_right/c_abf2
| id |
oai:revistasojs.ucaldas.edu.co:article_5831 |
|---|---|
| record_format |
ojs |
| spelling |
Diagnóstico de la deficiencia de Acil-CoA deshidrogenasa de cadena media mediante el uso de sustratos tritiados. Diagnosis of medium chain Acyl Co-A dehydrogenase deficiency using tritiated substrates La acil-CoA deshidrogenasa de cadena media (MCAD) cataliza la primera reacción de la degradación de ácidos grasos de 10 a 12 átomos de carbono. Su deficiencia debe ser siempre confirmada por estudios de laboratorio. En el presente trabajo, fueron incubados fibroblastos de pacientes que presentaban la deficiencia de MCAD, en presencia de sustratos tritiados. Fue encontrada diferencia significativa (P<0,05) al comparar la degradación de palmitato y miristato tritiado entre controles y pacientes con deficiencia de MCAD. Se observó más deprimida la oxidación de miristato tritiado que la de palmitato tritiado. The medium-chain acyl-CoA dehydrogenase (MCAD) is the key enzyme for degrading fatty acids with a chain of 10 to 12 atoms of carbon. Its deficiency should be confirmed using laboratory methods. During the present work, fibroblasts from patients who presented MCAD deficiency were incubated, in tritiated substrates. A significant difference (P<0.05) was found when comparing palmitate and miristate between controls and patients with MCAD deficiency. The triatiated miristate presented a more depressed oxidation in comparison to palmitate. Osorio, José Henry Ribes, Antonia Lluch, Montse MCAD ácidos grasos metabolismo MCAD fatty acids metabolism 7 , Año 2008 : Enero - Diciembre Artículo de revista Journal article 2022-03-17T00:37:20Z 2022-03-17T00:37:20Z 2022-03-17 application/pdf Universidad de Caldas Biosalud 1657-9550 2462-960X https://revistasojs.ucaldas.edu.co/index.php/biosalud/article/view/5831 https://revistasojs.ucaldas.edu.co/index.php/biosalud/article/view/5831 spa https://creativecommons.org/licenses/by-nc-sa/4.0/ Revista Biosalud - 2008 57 61 Derks TG, Boer TS, van Assen A, Bos T, Ruiter J, Waterham HR, et al. Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency. J Inherit Metab Dis. 2008;31(1):88-96. Zeng J, Liu Y, Wu L, Li D. Mutation of Tyr375 to Lys375 allows medium-chain acyl-CoA dehydrogenase to acquire acyl-CoA oxidase activity. Biochim Biophys Acta. 2007;1774:1628-1634. Santos L, Patterson A, Moreea SM, Lippiatt CM, Walter J, Henderson M. Acute liver failure in pregnancy associated with maternal MCAD deficiency. J. Inherit Metab Dis. 2007;30:103. Cyriac J, Venkatesh V, Gupta C.A fatal neonatal presentation of medium-chain acyl coenzyme a dehydrogenase deficiency. J Int Med Res. 2008;36:609-610. Yang Z, Lantz PE, Ibdah JA. Post-mortem analysis for two prevalent beta-oxidation mutations in sudden infant death. Pediatr Int. 2007;49:883-7. Osorio JH. Patología molecular de los errores hereditarios de la ß-oxidación mitocondrial de los ácidos grasos: alcances en el diagnóstico y tratamiento. Biosalud. 2006;5:71-83. Lowry OH, Rosebrough NJ, Farr Al, Randall RJ. Protein measurement with the Folin phenol reagent. J Biol Chem. 1951;193:265-275. Manning NJ, Olpin SE, Pollit RJ, Webley JA. Comparison of 9.10-3HPalmitic and 9.10-3Hmyristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts. J Inher Metab Dis. 1990;13:58-68. Olpin SE, Manning NJ, Carpenter K, Middleton B, Pollit RJ. Differential diagnosis of hydroxydicarboxylic aciduria based on release of 3H2O from [9,10-3H]-myristic and [9,10-3H]-palmitic acids by intact cultured fibroblasts. J Inher Metab Dis. 1992;15:883-890. Kolvraa S, Gregersen N, Christiensen E, Hobolth N. In vitro fibroblasts studies in a patient with C6-C10 dicarboxilic aciduria: evidence for a defect in general acyl-CoA dehydrogenase. Clin Chim Acta. 1982;126:53-67. Saudubray JM, Coude FX, Demaugre F, Johnson C, Gibson KM, Nyhan WL. Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation. Pediatr Res. 1982;16:877-881. Rhead WJ, Moon A, Oettger V, Henkle K. 14CO2-Labelled sustrate catabolism by human diploid fibroblasts derived from infants and adults. Biochem Med. 1985;34:182-188. Veerkamp JH, Van Moerkerk HTB, Glatz JFC, Zuurveld JGEM, Jacobs AEM, et al. 14CO2 production is no measure of [14C]fatty acid oxidation. Biochem. Med Metab Biol. 1986;16:248-259. Moon A, Rhead WJ. Complementation analysis of fatty acid oxidation disorders. J Clin Invest. 1987;79:56-94. Nada MA, Rhead JW, Sprecher H, Schulz H, Roe CR. Evidence for intermediate channeling in mitochondrial ß-oxidation. J Biol Chem. 1985;270:530-535. Olpin SE, Manning NJ, Pollit, RJ, Clarke S. Improved detection of long chain fatty acid oxidation defects in intact cells using [9,10-3H]-oleic acid. J Inher Metab Dis. 1997;20:415-419. https://revistasojs.ucaldas.edu.co/index.php/biosalud/article/download/5831/5270 info:eu-repo/semantics/article http://purl.org/coar/resource_type/c_6501 http://purl.org/coar/resource_type/c_2df8fbb1 http://purl.org/redcol/resource_type/ART info:eu-repo/semantics/publishedVersion http://purl.org/coar/version/c_970fb48d4fbd8a85 info:eu-repo/semantics/openAccess http://purl.org/coar/access_right/c_abf2 Text Publication |
| institution |
UNIVERSIDAD DE CALDAS |
| thumbnail |
https://nuevo.metarevistas.org/UNIVERSIDADDECALDAS/logo.png |
| country_str |
Colombia |
| collection |
Biosalud |
| title |
Diagnóstico de la deficiencia de Acil-CoA deshidrogenasa de cadena media mediante el uso de sustratos tritiados. |
| spellingShingle |
Diagnóstico de la deficiencia de Acil-CoA deshidrogenasa de cadena media mediante el uso de sustratos tritiados. Osorio, José Henry Ribes, Antonia Lluch, Montse MCAD ácidos grasos metabolismo MCAD fatty acids metabolism |
| title_short |
Diagnóstico de la deficiencia de Acil-CoA deshidrogenasa de cadena media mediante el uso de sustratos tritiados. |
| title_full |
Diagnóstico de la deficiencia de Acil-CoA deshidrogenasa de cadena media mediante el uso de sustratos tritiados. |
| title_fullStr |
Diagnóstico de la deficiencia de Acil-CoA deshidrogenasa de cadena media mediante el uso de sustratos tritiados. |
| title_full_unstemmed |
Diagnóstico de la deficiencia de Acil-CoA deshidrogenasa de cadena media mediante el uso de sustratos tritiados. |
| title_sort |
diagnóstico de la deficiencia de acil-coa deshidrogenasa de cadena media mediante el uso de sustratos tritiados. |
| title_eng |
Diagnosis of medium chain Acyl Co-A dehydrogenase deficiency using tritiated substrates |
| description |
La acil-CoA deshidrogenasa de cadena media (MCAD) cataliza la primera reacción de la degradación de ácidos grasos de 10 a 12 átomos de carbono. Su deficiencia debe ser siempre confirmada por estudios de laboratorio. En el presente trabajo, fueron incubados fibroblastos de pacientes que presentaban la deficiencia de MCAD, en presencia de sustratos tritiados. Fue encontrada diferencia significativa (P<0,05) al comparar la degradación de palmitato y miristato tritiado entre controles y pacientes con deficiencia de MCAD. Se observó más deprimida la oxidación de miristato tritiado que la de palmitato tritiado.
|
| description_eng |
The medium-chain acyl-CoA dehydrogenase (MCAD) is the key enzyme for degrading fatty acids with a chain of 10 to 12 atoms of carbon. Its deficiency should be confirmed using laboratory methods. During the present work, fibroblasts from patients who presented MCAD deficiency were incubated, in tritiated substrates. A significant difference (P<0.05) was found when comparing palmitate and miristate between controls and patients with MCAD deficiency. The triatiated miristate presented a more depressed oxidation in comparison to palmitate.
|
| author |
Osorio, José Henry Ribes, Antonia Lluch, Montse |
| author_facet |
Osorio, José Henry Ribes, Antonia Lluch, Montse |
| topicspa_str_mv |
MCAD ácidos grasos metabolismo |
| topic |
MCAD ácidos grasos metabolismo MCAD fatty acids metabolism |
| topic_facet |
MCAD ácidos grasos metabolismo MCAD fatty acids metabolism |
| citationvolume |
7 |
| citationedition |
, Año 2008 : Enero - Diciembre |
| publisher |
Universidad de Caldas |
| ispartofjournal |
Biosalud |
| source |
https://revistasojs.ucaldas.edu.co/index.php/biosalud/article/view/5831 |
| language |
spa |
| format |
Article |
| rights |
https://creativecommons.org/licenses/by-nc-sa/4.0/ Revista Biosalud - 2008 info:eu-repo/semantics/openAccess http://purl.org/coar/access_right/c_abf2 |
| references |
Derks TG, Boer TS, van Assen A, Bos T, Ruiter J, Waterham HR, et al. Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency. J Inherit Metab Dis. 2008;31(1):88-96. Zeng J, Liu Y, Wu L, Li D. Mutation of Tyr375 to Lys375 allows medium-chain acyl-CoA dehydrogenase to acquire acyl-CoA oxidase activity. Biochim Biophys Acta. 2007;1774:1628-1634. Santos L, Patterson A, Moreea SM, Lippiatt CM, Walter J, Henderson M. Acute liver failure in pregnancy associated with maternal MCAD deficiency. J. Inherit Metab Dis. 2007;30:103. Cyriac J, Venkatesh V, Gupta C.A fatal neonatal presentation of medium-chain acyl coenzyme a dehydrogenase deficiency. J Int Med Res. 2008;36:609-610. Yang Z, Lantz PE, Ibdah JA. Post-mortem analysis for two prevalent beta-oxidation mutations in sudden infant death. Pediatr Int. 2007;49:883-7. Osorio JH. Patología molecular de los errores hereditarios de la ß-oxidación mitocondrial de los ácidos grasos: alcances en el diagnóstico y tratamiento. Biosalud. 2006;5:71-83. Lowry OH, Rosebrough NJ, Farr Al, Randall RJ. Protein measurement with the Folin phenol reagent. J Biol Chem. 1951;193:265-275. Manning NJ, Olpin SE, Pollit RJ, Webley JA. Comparison of 9.10-3HPalmitic and 9.10-3Hmyristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts. J Inher Metab Dis. 1990;13:58-68. Olpin SE, Manning NJ, Carpenter K, Middleton B, Pollit RJ. Differential diagnosis of hydroxydicarboxylic aciduria based on release of 3H2O from [9,10-3H]-myristic and [9,10-3H]-palmitic acids by intact cultured fibroblasts. J Inher Metab Dis. 1992;15:883-890. Kolvraa S, Gregersen N, Christiensen E, Hobolth N. In vitro fibroblasts studies in a patient with C6-C10 dicarboxilic aciduria: evidence for a defect in general acyl-CoA dehydrogenase. Clin Chim Acta. 1982;126:53-67. Saudubray JM, Coude FX, Demaugre F, Johnson C, Gibson KM, Nyhan WL. Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation. Pediatr Res. 1982;16:877-881. Rhead WJ, Moon A, Oettger V, Henkle K. 14CO2-Labelled sustrate catabolism by human diploid fibroblasts derived from infants and adults. Biochem Med. 1985;34:182-188. Veerkamp JH, Van Moerkerk HTB, Glatz JFC, Zuurveld JGEM, Jacobs AEM, et al. 14CO2 production is no measure of [14C]fatty acid oxidation. Biochem. Med Metab Biol. 1986;16:248-259. Moon A, Rhead WJ. Complementation analysis of fatty acid oxidation disorders. J Clin Invest. 1987;79:56-94. Nada MA, Rhead JW, Sprecher H, Schulz H, Roe CR. Evidence for intermediate channeling in mitochondrial ß-oxidation. J Biol Chem. 1985;270:530-535. Olpin SE, Manning NJ, Pollit, RJ, Clarke S. Improved detection of long chain fatty acid oxidation defects in intact cells using [9,10-3H]-oleic acid. J Inher Metab Dis. 1997;20:415-419. |
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2022-03-17 |
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https://revistasojs.ucaldas.edu.co/index.php/biosalud/article/view/5831 |
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2462-960X |
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