title: [Mitochondrial DNA heteroplasmy of the m.3243A>G mutation in maternally inherited diabetes and deafness].
abstract: 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 of mutant mitochondrial DNA copies in each cell and tissue (heteroplasmy). The identification of MIDD allows a corred treatment with insulin avoiding drugs that may interfere with mitochondrial electrón chain transpon. We estimated the degree of heteroplasmy of the 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 creating plasmids 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.
authors.affiliation: Departamento de Nutrición, Diabetes y Metabolismo, Pontificia Universidad Católica de Chile, Chile.
authors.forename: Luis Rodrigo
authors.initials: LR
authors.lastname: Cataldo
authors.forename: Pablo
authors.initials: P
authors.lastname: Olmos
authors.forename: Susan
authors.initials: S
authors.lastname: Valerie Smalley
authors.forename: Alberto
authors.initials: A
authors.lastname: Díez
authors.forename: Alejandra
authors.initials: A
authors.lastname: Parada
authors.forename: Roger
authors.initials: R
authors.lastname: Gejman
authors.forename: Ricardo
authors.initials: R
authors.lastname: Fadic
authors.forename: José Luis
authors.initials: JL
authors.lastname: Santos
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics*; D003638:Deafness / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D003924:Diabetes Mellitus, Type 2 / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008875:Middle Aged; D028361:Mitochondrial Diseases; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction / Q000379:methods
chemical_list: D004272:DNA, Mitochondrial