Genetics of mitochondrial diseases: Identifying mutations to help diagnosis

EBioMedicine. 2020 Jun:56:102784. doi: 10.1016/j.ebiom.2020.102784. Epub 2020 May 23.


Mitochondrial diseases are amongst the most genetically and phenotypically diverse groups of inherited diseases. The vast phenotypic overlap with other disease entities together with the absence of reliable biomarkers act as driving forces for the integration of unbiased methodologies early in the diagnostic algorithm, such as whole exome sequencing (WES) and whole genome sequencing (WGS). Such approaches are used in variant discovery and in combination with high-throughput functional assays such as transcriptomics in simultaneous variant discovery and validation. By capturing all genes, they not only increase the diagnostic rate in heterogenous mitochondrial disease patients, but accelerate novel disease gene discovery, and are valuable in side-stepping the risk of overlooking unexpected or even treatable genetic disease diagnoses.

Keywords: Diagnostic; Genetic; Mitochondrial disease; Multi-omic; Mutation.

Publication types

  • Review

MeSH terms

  • Early Diagnosis
  • Exome Sequencing
  • Genetic Association Studies / methods*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Mitochondrial Diseases / diagnosis*
  • Mitochondrial Diseases / genetics
  • Mutation*
  • Whole Genome Sequencing