Performance of the MLPA technique for detecting common mutations in Leber hereditary optic neuropathy

Mitochondrial DNA A DNA Mapp Seq Anal. 2019 Dec;30(8):819-824. doi: 10.1080/24701394.2019.1670819. Epub 2019 Sep 28.


Leber hereditary optic neuropathy (LHON) causes painless vision loss resulting from mitochondrial DNA (mtDNA) mutation. Over 95% of LHON cases result from one of three mtDNA point mutations (m.3460G>A, m.11778G>A, and m.14484T>C). There is no established cure for LHON; early and accurate diagnosis would enable patients to be given appropriate treatments leading to a reduction of the disease progression. To increase the accessibility to molecular genetic testing for LHON, an accurate and cost-effective technique is required. The purpose of this study was to evaluate the accuracy of multiplex ligation-dependent probe amplification (MLPA) for detecting the three common mutations in 18 LHON blood specimens. Validation of the results using direct DNA sequencing technology proved that the MLPA technique had 100% accuracy, with no false-positive results. This study demonstrates that MLPA could provide a highly accurate, economical, and widely accessible technique for routine molecular genetic testing for mitochondrial disorders.

Keywords: Leber hereditary optic neuropathy; MLPA; mitochondrial DNA.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • DNA, Mitochondrial / genetics
  • Female
  • Genome, Mitochondrial / genetics
  • Humans
  • Male
  • Multiplex Polymerase Chain Reaction*
  • Mutation
  • Optic Atrophy, Hereditary, Leber / blood
  • Optic Atrophy, Hereditary, Leber / genetics*
  • Sequence Analysis, DNA*
  • Species Specificity
  • Young Adult


  • DNA, Mitochondrial