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

Publication date: Available online 13 August 2018Source: MitochondrionAuthor(s): Mehul A. Sharma, Ja Young J. Lee, Andrea Tam, Beheroze Sattha, Ian R. Mackenzie, Hilary D. Vallance, Sandra Sirrs, Fady Hannah-Shmouni, Hélène C.F. Côté, .Andre MattmanAbstractMuscle 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.

Source: Mitochondrion - August 13, 2018 Category: Biochemistry Source Type: research