Mitochondrial DNA variant discovery and evaluation in human Cardiomyopathies through next-generation sequencing

• Published in: PloS one Vol. 5; no. 8; p. e12295
• Main Authors: Zaragoza, Michael V, Fass, Joseph, Diegoli, Marta, Lin, Dawei, Arbustini, Eloisa
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 20.08.2010; Public Library of Science (PLoS)
• Subjects: Base Sequence; Bioinformatics; Cardiac patients; Cardiomyopathies - genetics; Cardiomyopathy; Cardiovascular Disorders/Heart Failure; Cardiovascular Disorders/Myopathies; Comparative analysis; Computational Biology; Deoxyribonucleic acid; Disease; DNA; DNA sequencing; DNA, Mitochondrial - genetics; Evolutionary Biology/Genomics; Female; Gene mapping; Gene sequencing; Genetic Variation; Genetics and Genomics; Genetics and Genomics/Bioinformatics; Genetics and Genomics/Genetics of Disease; Genetics and Genomics/Genomics; Genetics and Genomics/Medical Genetics; Genomes; Genomics; Heart; Heart diseases; Heteroplasmy; Humans; Male; Medical research; Mitochondrial Diseases - genetics; Mitochondrial DNA; Multiplexing; Mutation; Nucleotide sequence; Patients; Phylogenetics; Reference materials; Sequence Analysis, DNA - methods; Serine; Simulation; Studies; Tissues; Transfer RNA; tRNA Ser; United States > US; San Mateo California; California

Mutations in mitochondrial DNA (mtDNA) may cause maternally-inherited cardiomyopathy and heart failure. In homoplasmy all mtDNA copies contain the mutation. In heteroplasmy there is a mixture of normal and mutant copies of mtDNA. The clinical phenotype of an affected individual depends on the type o...