Heteroplasmia de la mutación del ADN mitocondrial m.3243A>G en la diabetes y sordera de herencia materna

Maternally Inherited Diabetes and Deafness (MIDD) is caused by mutations in mitochondrial DNA (mtDNA), mainly m.3243A>G. Severity, onset and clinical phenotype of MIDD patients are partially determined by the proportion ofmutant mitochondrial DNA copies in each cell and tissue (heteroplasmy). The...

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Autores principales:	Cataldo,Luis Rodrigo, Olmos,Pablo, Valerie Smalley,Susan, Díez,Alberto, Parada,Alejandra, Gejman,Roger, Fadic,Ricardo, Santos,José Luis
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2013
Materias:	Deafness DNA mitochondrial Genetic techniques
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872013000300004
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spelling	oai:scielo:S0034-988720130003000042013-11-15Heteroplasmia de la mutación del ADN mitocondrial m.3243A>G en la diabetes y sordera de herencia maternaCataldo,Luis RodrigoOlmos,PabloValerie Smalley,SusanDíez,AlbertoParada,AlejandraGejman,RogerFadic,RicardoSantos,José Luis Deafness DNA mitochondrial Genetic techniques Maternally Inherited Diabetes and Deafness (MIDD) is caused by mutations in mitochondrial DNA (mtDNA), mainly m.3243A>G. Severity, onset and clinical phenotype of MIDD patients are partially determined by the proportion ofmutant mitochondrial DNA copies in each cell and tissue (heteroplasmy). The identification ofMIDD allows a corred treatment with insulin avoiding drugs that may interfere with mitochondrial electrón chain transpon. We estimated the degree of heteroplasmy ofthe mutation m.3243A>G from blood, saliva, hair root and a muscle biopsy using quantitative PCR (qPCR) in a femóle adult patient. For this purpose, PCR producís were inserted in a vector creatingplasmids with 3243A or G. Mutant and wild-type vectors were mixed in different proportions to créate a calibration curve used to interpólate heteroplasmy percentages with qPCR threshold cycles. The proportions of m.3243A>G heteroplasmy were 62% (muscle), 14% (saliva), 6% (blood leukocytes) and 3% in hair root. Quantitative analysis of heteroplasmy showed marked variations in different tissues (highest in muscle and lowest in blood). Given the relatively high heteroplasmy found in saliva, this type of biológical sample may represent an adequate non-invasive way for assessing the presence of m.3243A>G mutations in epidemiologic studies.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.141 n.3 20132013-03-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872013000300004es10.4067/S0034-98872013000300004
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Deafness DNA mitochondrial Genetic techniques
spellingShingle	Deafness DNA mitochondrial Genetic techniques Cataldo,Luis Rodrigo Olmos,Pablo Valerie Smalley,Susan Díez,Alberto Parada,Alejandra Gejman,Roger Fadic,Ricardo Santos,José Luis Heteroplasmia de la mutación del ADN mitocondrial m.3243A>G en la diabetes y sordera de herencia materna
description	Maternally Inherited Diabetes and Deafness (MIDD) is caused by mutations in mitochondrial DNA (mtDNA), mainly m.3243A>G. Severity, onset and clinical phenotype of MIDD patients are partially determined by the proportion ofmutant mitochondrial DNA copies in each cell and tissue (heteroplasmy). The identification ofMIDD allows a corred treatment with insulin avoiding drugs that may interfere with mitochondrial electrón chain transpon. We estimated the degree of heteroplasmy ofthe mutation m.3243A>G from blood, saliva, hair root and a muscle biopsy using quantitative PCR (qPCR) in a femóle adult patient. For this purpose, PCR producís were inserted in a vector creatingplasmids with 3243A or G. Mutant and wild-type vectors were mixed in different proportions to créate a calibration curve used to interpólate heteroplasmy percentages with qPCR threshold cycles. The proportions of m.3243A>G heteroplasmy were 62% (muscle), 14% (saliva), 6% (blood leukocytes) and 3% in hair root. Quantitative analysis of heteroplasmy showed marked variations in different tissues (highest in muscle and lowest in blood). Given the relatively high heteroplasmy found in saliva, this type of biológical sample may represent an adequate non-invasive way for assessing the presence of m.3243A>G mutations in epidemiologic studies.
author	Cataldo,Luis Rodrigo Olmos,Pablo Valerie Smalley,Susan Díez,Alberto Parada,Alejandra Gejman,Roger Fadic,Ricardo Santos,José Luis
author_facet	Cataldo,Luis Rodrigo Olmos,Pablo Valerie Smalley,Susan Díez,Alberto Parada,Alejandra Gejman,Roger Fadic,Ricardo Santos,José Luis
author_sort	Cataldo,Luis Rodrigo
title	Heteroplasmia de la mutación del ADN mitocondrial m.3243A>G en la diabetes y sordera de herencia materna
title_short	Heteroplasmia de la mutación del ADN mitocondrial m.3243A>G en la diabetes y sordera de herencia materna
title_full	Heteroplasmia de la mutación del ADN mitocondrial m.3243A>G en la diabetes y sordera de herencia materna
title_fullStr	Heteroplasmia de la mutación del ADN mitocondrial m.3243A>G en la diabetes y sordera de herencia materna
title_full_unstemmed	Heteroplasmia de la mutación del ADN mitocondrial m.3243A>G en la diabetes y sordera de herencia materna
title_sort	heteroplasmia de la mutación del adn mitocondrial m.3243a>g en la diabetes y sordera de herencia materna
publisher	Sociedad Médica de Santiago
publishDate	2013
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872013000300004
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Heteroplasmia de la mutación del ADN mitocondrial m.3243A>G en la diabetes y sordera de herencia materna

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