Liver mtDNA content increases during development: A comparison of methods and the importance of age- and tissue-specific controls for the diagnosis of mtDNA depletion

Karl J. Morten, Neil Ashley, Frits Wijburg, Nedim Hadzic, Jeremy Parr, Sandeep Jayawant, Susan Adams, Laurence Bindoff, Henk D. Bakker, Giorgina Mieli-Vergani, Massimo Zeviani, Joanna Poulton

Research output: Contribution to journalArticle

Abstract

Background: The quantitative loss of mitochondrial DNA (mtDNA) known as mtDNA depletion, often gives rise to liver disease. The diagnosis of mtDNA depletion syndrome is frequently imprecise, both for technical reasons and because of the lack of established age-adjusted normal ranges. We aimed to refine quantitative methods for diagnosing the hepatic type of mtDNA depletion syndrome, firstly by establishing an age-matched reference range for mitochondrial to nuclear DNA ratio (henceforth "mtDNA content") and secondly by investigating mtDNA in fibroblasts. Methods: By comparing realtime PCR with an established method for quantifying mtDNA content we established a reference range for young children using biopsy and post-mortem material from patients

Original languageEnglish
Pages (from-to)386-395
Number of pages10
JournalMitochondrion
Volume7
Issue number6
DOIs
Publication statusPublished - Dec 2007

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Keywords

  • Hepatocerebral syndrome
  • Mitochondrial DNA
  • Movement disorder
  • mtDNA depletion syndrome
  • PicoGreen

ASJC Scopus subject areas

  • Biophysics

Cite this

Morten, K. J., Ashley, N., Wijburg, F., Hadzic, N., Parr, J., Jayawant, S., Adams, S., Bindoff, L., Bakker, H. D., Mieli-Vergani, G., Zeviani, M., & Poulton, J. (2007). Liver mtDNA content increases during development: A comparison of methods and the importance of age- and tissue-specific controls for the diagnosis of mtDNA depletion. Mitochondrion, 7(6), 386-395. https://doi.org/10.1016/j.mito.2007.09.001