1. A mitochondrial DNA D loop insertion detected almost exclusively in non-replicating tissues with maternal inheritance across three generations
- Author
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Ian R. A. Mackenzie, Andrea Tam, Hélène C. F. Côté, Ja Young J. Lee, Hilary Vallance, Mehul Sharma, Sandra Sirrs, Andre Mattman, Fady Hannah-Shmouni, and Beheroze Sattha
- Subjects
0301 basic medicine ,Mitochondrial DNA ,Non-Mendelian inheritance ,Mitochondrial Diseases ,Biopsy ,Biology ,DNA, Mitochondrial ,03 medical and health sciences ,0302 clinical medicine ,D-loop ,medicine ,Humans ,Muscle, Skeletal ,Molecular Biology ,Genetics ,Muscle biopsy ,medicine.diagnostic_test ,Skeletal muscle ,Cell Biology ,medicine.disease ,Heteroplasmy ,Metformin ,Mutagenesis, Insertional ,030104 developmental biology ,medicine.anatomical_structure ,Lactic acidosis ,Molecular Medicine ,Maternal Inheritance ,030217 neurology & neurosurgery ,medicine.drug - 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.
- Published
- 2018