Ontology highlight
ABSTRACT:
SUBMITTER: Belmonte FR
PROVIDER: S-EPMC4848546 | biostudies-literature | 2016 Apr
REPOSITORIES: biostudies-literature
Belmonte Frances R FR Martin James L JL Frescura Kristin K Damas Joana J Pereira Filipe F Tarnopolsky Mark A MA Kaufman Brett A BA
Scientific reports 20160428
Mitochondrial DNA (mtDNA) mutations are a common cause of primary mitochondrial disorders, and have also been implicated in a broad collection of conditions, including aging, neurodegeneration, and cancer. Prevalent among these pathogenic variants are mtDNA deletions, which show a strong bias for the loss of sequence in the major arc between, but not including, the heavy and light strand origins of replication. Because individual mtDNA deletions can accumulate focally, occur with multiple mixed ...[more]