A mitochondrial DNA D loop insertion detected almost exclusively in non-replicating tissues with maternal inheritance across three generations
| Autor: | 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, Beheroze Sattha |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
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 |
| Zdroj: | Mitochondrion. 46 |
| ISSN: | 1872-8278 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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