heteroplasmy

Introduction

presence differing organellar genomes (mitochondrial DNA or plasmid DNA) within a cell or individual.

Laboratory

• mitochondrially encoded genomic sequence panel + heteroplasmy

Clinical significance

• factor in considering severity of mitochondrial disease
• most eukaryotic cells contain many hundreds of mitochondria with 2-10 copies of mitochondrial DNA; it is common for mutations to affect only some mitochondria, leaving most unaffected
• mutations affecting 1-2% of all mitochondrial genomes (microheteroplasmy) is common
• heteroplasmy may be detrimental or beneficial
• centenarians show a higher than average degree of heteroplasmy

More general terms

• chromosomal aberration