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Related Concept Videos

Translation01:31

Translation

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Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
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Translation01:31

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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
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Proteins are...
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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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ATP Synthase: Mechanism01:48

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In animals, the mitochondrial F1F0 ATP synthase is the key protein that synthesizes ATP molecules through a complex catalytic mechanism. While the nuclear genome encodes the majority of ATP synthase subunits, the mitochondrial genome encodes some of the enzyme's most critical components. The formation of this multi-subunit enzyme is a complex multi-step process regulated at the level of transcription, translation, and assembly. Defects in one or more of these steps can result in decreased...
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Mitochondrial Protein Sorting01:39

Mitochondrial Protein Sorting

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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 Precursor Proteins01:39

Mitochondrial Precursor Proteins

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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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Updated: Jan 7, 2026

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
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Mitochondrial tRNA-Derived Diseases.

Antonia Petropoulou1, Nikolaos Kypraios1, Dimitra Rizopoulou1

  • 1Department of Biochemistry, School of Medicine, University of Patras, 26504 Patras, Greece.

International Journal of Molecular Sciences
|December 30, 2025
PubMed
Summary
This summary is machine-generated.

Mitochondrial tRNA gene mutations cause numerous diseases by disrupting protein production. This review details 500 variants, highlighting their broad impact and potential for gene editing therapies.

Keywords:
human diseasesmitochondrial tRNAmt-tRNA modificationsmtDNA mutations

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Area of Science:

  • Genetics and Molecular Biology
  • Mitochondrial Biology
  • Genomic Medicine

Background:

  • Mitochondrial tRNA (mt-tRNA) genes are hotspots for mutations causing mitochondrial diseases.
  • These mutations account for 70-75% of pathogenic mtDNA variants, impacting oxidative phosphorylation and leading to multisystem disorders.
  • Understanding these variants is crucial for diagnosing and treating complex genetic conditions.

Purpose of the Study:

  • To systematically review and classify clinically relevant pathogenic mt-tRNA mutations.
  • To analyze the affected organ systems and underlying molecular mechanisms of these mutations.
  • To explore the potential of genome editing for treating mt-tRNA-related diseases.

Main Methods:

  • Systematic literature review of PubMed, Scopus, and MITOMAP databases up to October 2025.
  • Indexing of pathogenic mt-tRNA mutations based on clinical relevance, affected organ systems, and molecular mechanisms.
  • Identification and cataloging of distinct pathogenic variants across all 22 mt-tRNA genes.

Main Results:

  • Approximately 500 distinct pathogenic mt-tRNA variants were identified.
  • Mutations implicate a wide range of conditions beyond classic syndromes, including cardiovascular, neuromuscular, sensory, metabolic, renal, neuropsychiatric, and oncological diseases.
  • Defects in post-transcriptional modification systems represent critical disease mechanisms alongside sequence mutations.

Conclusions:

  • Pathogenic mt-tRNA mutations are implicated in a diverse spectrum of human diseases.
  • Targeted genome editing therapies show promise for precision intervention in mitochondrial diseases, despite current translational challenges.
  • Further research into mt-tRNA mutation mechanisms and therapeutic correction is warranted.