A mitochondrial DNA D loop insertion detected almost exclusively in non-replicating tissues with maternal inheritance across three generations

Mitochondrion. 2019 May:46:298-301. doi: 10.1016/j.mito.2018.08.002. Epub 2018 Aug 13.

Abstract

Muscle biopsy identified a possibly pathogenic, mitochondrial DNA D-loop insertion, in each of 5 family members from two generations, that was otherwise undetectable in most other tissues. The tissue specific regulation of heteroplasmy is reflected in an age related increase in muscle heteroplasmy level, across the pedigree. This latter finding is in keeping with previous reports (e.g. T408A, C16327) but differs in having a very high muscle heteroplasmy level, and appears maternally transmitted.

Keywords: Aging; Lactic acidosis; Metformin; Mitochondrial DNA insertion; Muscle biopsy; Skeletal muscle.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biopsy
  • DNA, Mitochondrial / genetics*
  • Humans
  • Maternal Inheritance*
  • Mitochondrial Diseases / pathology*
  • Muscle, Skeletal / pathology*
  • Mutagenesis, Insertional*

Substances

  • DNA, Mitochondrial

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