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Updated: Aug 9, 2025

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

Genomic Strategies in Mitochondrial Diagnostics.

Dasha Deen¹, Charlotte L Alston^1,2, Gavin Hudson³

¹Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.

Methods in Molecular Biology (Clifton, N.J.)

|February 22, 2023

Summary

Diagnosing mitochondrial diseases is complex due to genetic variations in nuclear and mitochondrial genes. This chapter explores advanced gene prioritization strategies using whole-exome sequencing (WES) to identify causative variants.

Keywords:

Clinical reporting Genetic diagnosis Genomics Mitochondrial disease Variant annotation Variant detection Whole-exome sequencing

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Last Updated: Aug 9, 2025

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

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Published on: February 10, 2023

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Area of Science:

Genetics
Molecular Biology
Medical Genetics

Background:

Mitochondrial diseases exhibit significant clinical and genetic heterogeneity.
Over 300 nuclear genes are now associated with human mitochondrial diseases.
Genetic diagnosis of mitochondrial disease remains a significant challenge.

Purpose of the Study:

To describe current approaches for pinpointing causative variants in mitochondrial disease patients.
To highlight recent advancements in gene/variant prioritization techniques.
To focus on the application of whole-exome sequencing (WES) in this diagnostic process.

Main Methods:

Review of gene and variant prioritization strategies.
Application of whole-exome sequencing (WES) data analysis.
Integration of genetic and clinical information for variant interpretation.

Main Results:

Identification of numerous nuclear genes linked to mitochondrial diseases.
Development of sophisticated methods for variant analysis.
Improved ability to pinpoint causative variants through WES.

Conclusions:

Gene and variant prioritization are crucial for diagnosing mitochondrial diseases.
Whole-exome sequencing (WES) offers powerful tools for genetic diagnosis.
Continued advancements in sequencing and analysis enhance diagnostic capabilities.