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Related Concept Videos

Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

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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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Mitochondria are double-membrane organelles of the eukaryotes involved in cellular metabolism, signaling, ATP synthesis, and programmed cell death.  Each of these processes requires specific proteins and enzymes that must be correctly sorted to the right mitochondrial subcompartment for the proper functioning of the organelle.
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Mitochondrial precursors are partially unfolded or loosely folded polypeptide chains. Newly synthesized precursors are inhibited from spontaneously folding into their native conformation by the cytosolic chaperones, heat shock proteins 70 (Hsp70), and mitochondrial import stimulation factors (MSFs). Precursors bound to MSFs are guided to the TOM70-TOM37 receptors, while precursors bound to Hsp70  chaperones are targetted to TOM20-TOM22 receptor complexes.
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RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
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The present-day mitochondrial and chloroplast genomes have retained some of the characteristics of their ancestral prokaryotes and also have acquired new attributes during their evolution within eukaryotic cells. Like prokaryotic genomes, mitochondrial and chloroplast genomes neither bind with histone-like proteins nor show complex packaging into chromosome-like structures, as observed in eukaryotes. Unlike mitotic cell divisions observed in eukaryotic cells, mitochondria and chloroplasts...
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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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Updated: Apr 26, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
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Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

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RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease.

Zhimei Liu1, Xin Duan1, Fatemeh Peymani2,3

  • 1Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

Annals of Clinical and Translational Neurology
|April 25, 2026
PubMed
Summary
This summary is machine-generated.

RNA sequencing (RNA-seq) significantly improves molecular diagnosis for mitochondrial diseases by detecting splicing and regulatory events missed by DNA sequencing. This transcriptome analysis is crucial for diagnosing complex genetic disorders.

Keywords:
RNA sequencingmitochondrial diseasespediatricwhole‐exome sequencingwhole‐genome sequencing

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An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model
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Area of Science:

  • Genetics and Genomics
  • Molecular Biology
  • Biochemistry

Background:

  • Mitochondrial diseases are common inherited metabolic disorders with significant clinical and genetic heterogeneity.
  • Current DNA sequencing methods leave up to 50% of patients undiagnosed.
  • Accurate molecular diagnosis is essential for understanding and managing mitochondrial diseases.

Purpose of the Study:

  • To evaluate the efficacy of RNA sequencing (RNA-seq) in enhancing molecular diagnostic rates for mitochondrial diseases in undiagnosed Chinese pediatric patients.
  • To identify cryptic RNA splicing and regulatory events missed by DNA sequencing.
  • To improve the diagnostic yield in cases with variants of uncertain significance (VUS) and in unsolved genetic cohorts.

Main Methods:

  • RNA sequencing (RNA-seq) was performed on skin fibroblasts from 140 undiagnosed pediatric patients with suspected mitochondrial disease.
  • Patients were stratified into candidate (n=28) and unsolved (n=112) groups based on whole exome sequencing (WES) findings.
  • Integrative analysis of RNA-seq, WES, and whole genome sequencing (WGS) data was used to identify pathogenic variants and aberrant RNA events.

Main Results:

  • A genetic diagnosis was achieved in 25% of patients overall (71% in candidate group, 13% in unsolved group) using integrated multi-omics analysis.
  • Aberrant RNA splicing was a major diagnostic contributor, revealing pathogenic variants missed by in silico predictors.
  • The study identified various variant types, including synonymous mutations, with a recurrent East Asian founder mutation in ECHS1 identified in seven cases.

Conclusions:

  • RNA sequencing significantly enhances molecular diagnosis of mitochondrial disease by uncovering cryptic splicing and regulatory events.
  • Transcriptome analysis is an essential tool for comprehensive genomic diagnostics in neurometabolic disorders.
  • These findings advocate for the routine inclusion of RNA-seq in genetic testing workflows for undiagnosed mitochondrial diseases.