Mitochondrial Genomics: A Complex Field Now Coming of Age

AbstractPurpose of ReviewThe groundwork for mitochondrial medicine was laid 30  years ago with identification of the first disease-causing mitochondrial DNA (mtDNA) mutations in 1988. Three decades later, mutations in nearly 300 genes involving every possible mode of inheritance within both nuclear and mitochondrial genomes are now recognized to collectively comprise the larg est class of inherited metabolic disease, affecting at least 1 in 4300 individuals across all ages. Significant progress has been made in recent years to improve understanding of mitochondrial biology and disease pathophysiology.Recent FindingsMarkedly improved understanding of the highly diverse molecular etiologies of multisystemic phenotypes in primary mitochondrial disease has resulted from massively parallel genomic sequencing technologies and improved bioinformatic resources that enable identification in individual patients of their disease ’s precise genetic etiology. Key informatics resources of particular utility to the mitochondrial disease genomics community have been developed, including: (1) Mitocarta 2.0 repository of 1200+ verified mitochondria-localized proteins, (2) MITOMAP Web resource of curated mtDNA genome variants, an d (3) Mitochondrial Disease Sequence Data Resource (MSeqDR) that centralizes Web curation and annotation of mitochondrial disease genes and variants in both genomes, ontology-defined phenotypes, and access to many analytic tools to support dual genomic data mining a...
Source: Current Genetic Medicine Reports - Category: Genetics & Stem Cells Source Type: research