Using Whole-Genome Sequencing for Mitochondrial Disease Diagnosis

Whole-genome sequencing identified mutations in approximately half of patients with suspected mitochondrial disorders.

Despite being a common cause of inherited metabolic disease, mitochondrial disorder diagnosis can be challenging, owing in part to variability in clinical presentation and age of onset, differences of affected tissues, heteroplasmy, and dual nuclear and mitochondrial genomic expression. To determine the mitochondrial variant detection rate of whole-genome sequencing, investigators prospectively recruited patients with suspected mitochondrial disease from an Australian mitochondrial specialist clinic. Blood samples from 242 adult patients (149 female; average age, 49.5 years) were analyzed using standard whole-genome sequencing methods. A bioinformatics platform to capture low levels of heteroplasmic mitochondrial DNA was also applied.

Diseas…

Reviewing Author

Leana Doherty, MD

Disclosures

Editorial BoardsNeurohospitalist Society; InterACTN (Annals of Clinical and Translational Neurology)

Leana Doherty, MD

Disclosures

Editorial BoardsNeurohospitalist Society; InterACTN (Annals of Clinical and Translational Neurology)

Using Whole-Genome Sequencing for Mitochondrial Disease Diagnosis

Topics

Reviewing Author