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Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...

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Updated: Jun 19, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

Next generation sequence analysis for mitochondrial disorders.

Valeria Vasta¹, Sarah B Ng, Emily H Turner

¹Seattle Children's Research Institute, 1900 9th Ave, Seattle, WA 98101, USA. valeria.vasta@seattlechildrens.org.

Genome Medicine

|October 27, 2009

Summary

This summary is machine-generated.

This study introduces a new next-generation sequencing method for diagnosing mitochondrial disorders, offering accurate identification of mutations in both nuclear and mitochondrial DNA. This advancement promises faster and more comprehensive molecular diagnostics for these complex genetic conditions.

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Area of Science:

Genetics
Molecular Biology
Medical Diagnostics

Background:

Mitochondrial disorders stem from mutations in nuclear or mitochondrial DNA (mtDNA).
Clinical diagnosis is challenging due to numerous potential genes and non-specific phenotypes.
Accurate molecular diagnostics are crucial for effective patient management.

Purpose of the Study:

To develop and validate a novel targeted resequencing assay for comprehensive molecular diagnosis of mitochondrial disorders.
To assess the efficacy of microarray-based hybrid capture coupled with next-generation sequencing (NGS) for detecting mutations in nuclear and mtDNA.

Main Methods:

Developed a targeted resequencing assay covering the entire mtDNA genome and 362 nuclear genes associated with mitochondrial disorders.
Employed microarray-based hybrid capture and next-generation sequencing.
Validated the assay using HapMap and positive control samples, including blind testing of patient samples.

Main Results:

Achieved >94% targeted region coverage with high quality, enabling reliable variant calling.
Demonstrated 100% concordance with Sanger sequencing for known pathogenic mutations (PDHA1, HADHA).
Identified novel variants and showed high mtDNA coverage, suggesting detection of low-level heteroplasmy; cost-effective potential demonstrated.

Conclusions:

Next-generation sequencing is a promising tool for screening mitochondrial disorders.
A comprehensive molecular diagnostic tool can improve early and rapid identification of these conditions.
The approach can identify new causative mutations, expanding the genetic landscape of mitochondrial disorders.