Mitochondrial disorders are heterogeneous diseases that can arise at any stage of life. Studying mutations associated with mitochondrial disorders remains a challenge due to phenotypic variability and genetic heterogeneity among individuals.
Mitochondrial sequencing with next-generation sequencing (NGS) technology addresses these challenges, enabling comprehensive detection and analysis of mitochondrial disease-associated variants. NGS also enables mitochondrial DNA analysis for other applications such as human identification, forensics, and cancer research.
Mitochondrial sequencing with NGS enables:
Common NGS methods for analyzing mitochondrial disease-associated mutations include whole-exome sequencing and targeted gene sequencing.
Whole-exome sequencing analyzes the protein-coding regions of the genome, with the capability to expand to include untranslated regions (UTRs) and microRNAs if desired.
Targeted gene sequencing focuses on specific genes or gene regions of interest with known or suspected disease associations.
Compare the two methods in the table below.
Provides a complete picture of the coding regions of the mitochondrial genome. Enables researchers to take a closer look at the mitochondrial regions where causative variants are often found.
Focuses on particular mitochondrial genes or regions. Utilizes sequencing panels that are selected based on a priori knowledge of mitochondrial disease-associated variants.
|Additional Information||Learn More About Exome Sequencing||Learn More About Targeted Sequencing
Researchers at Mount Sinai use Illumina sequencing to develop novel methods for studying mitochondrial DNA, piwi-interacting RNA, and T cell receptor repertoire diversity. Their goal is to unravel cancer, infertility, and autoimmune disease mechanisms.Read Article
A fast, integrated workflow for a wide range of applications, from human whole-genome sequencing to amplicons, plasmids, and more.
Affordable, fast, and accessible sequencing power for targeted or small genome sequencing in any lab.
Enables streamlined variant analysis of D-loop and whole mitochondrial DNA sequencing data.
Enables simplified visualization of D-loop and whole mitochondrial DNA sequencing data.
The iSeq 100 System is part of a fully supported solution for mitochondrial sequencing. This NGS workflow proceeds from DNA to data in less than 24 hours, delivering exceptional coverage of the entire mitochondrial genome.View App Note
Since mtDNA is present in hundreds to thousands of copies per cell, it can survive environments where nuclear DNA does not. This makes mtDNA analysis a powerful tool for human identification. However, heteroplasmy (the principle that mtDNA sequences may be tissue type-specific or even vary within a single cell or tissue type) can make it difficult to confirm sample associations needed for forensic identification.
Illumina NGS enables accurate detection of mitochondrial DNA heteroplasmy and high resolution of mixed samples.