Techniques and pitfalls in the detection of pathogenic mitochondrial DNA mutations

Carlos T. Moraes, David P. Atencio, Jose Oca-Cossio, Francisca Diaz

Research output: Contribution to journalReview articlepeer-review

43 Scopus citations


Mutations in the mitochondrial DNA (mtDNA) are now recognized as major contributors to human pathologies and possibly to normal aging. A large number of rearrangements and point mutations in protein coding and tRNA genes have been identified in patients with mitochondrial disorders. In this review, we discuss genotype-phenotype correlations in mitochondrial diseases and common techniques used to identify pathogenic mtDNA mutations in human tissues. Although most of these approaches employ standard molecular biology tools, the co-existence of wild-type and mutated mtDNA (mtDNA heteroplasmy) in diseased tissues complicates both the detection and accurate determination of the size of the mutated fractions. To address these problems, novel approaches were developed and are discussed in this review.

Original languageEnglish (US)
Pages (from-to)197-208
Number of pages12
JournalJournal of Molecular Diagnostics
Issue number4
StatePublished - Nov 2003

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Medicine


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