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Related Concept Videos

Translation01:31

Translation

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 Life
Translation01:31

Translation

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 Life
Mutations01:39

Mutations

Overview
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Mutations01:39

Mutations

Overview
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

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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Related Experiment Video

Updated: May 29, 2026

Transmitochondrial Cybrid Generation Using Cancer Cell Lines
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Transmitochondrial Cybrid Generation Using Cancer Cell Lines

Published on: March 17, 2023

Mitochondrial tRNA mutations and disease.

John W Yarham1, Joanna L Elson, Emma L Blakely

  • 1Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.

Wiley Interdisciplinary Reviews. RNA
|September 22, 2011
PubMed
Summary

Mitochondrial (mt-) tRNA (MTT) gene mutations cause diverse human diseases. Research is improving our understanding of these mutations, their complex inheritance, and potential therapies.

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Published on: October 8, 2018

Area of Science:

  • Genetics
  • Molecular Biology
  • Human Pathology

Background:

  • Mitochondrial (mt-) tRNA (MTT) gene mutations are significant causes of human morbidity.
  • These mutations are linked to a spectrum of diseases, from isolated myopathy and hearing loss to multisystem disorders like cardiomyopathy and encephalopathy.
  • Understanding genotype-phenotype correlations and mtDNA polymorphism is crucial for diagnosing MTT mutations.

Purpose of the Study:

  • To review methods for identifying and characterizing pathogenic MTT mutations.
  • To discuss molecular mechanisms underlying MTT mutation-induced diseases.
  • To examine factors influencing MTT mutation inheritance and disease transmission.

Main Methods:

  • Review of current methodologies for MTT mutation identification and characterization.
  • Analysis of molecular data for specific MTT mutations (m.8344A > G, m.3243A > G) and pathogenic mechanisms.
  • Evaluation of yeast and mouse models for studying mitochondrial diseases.

Main Results:

  • Significant progress is being made in understanding MTT mutations.
  • Specific mutations like m.8344A > G and m.3243A > G serve as key examples for studying pathogenic mechanisms.
  • Factors influencing inheritance and disease transmission are still under investigation.

Conclusions:

  • Mitochondrial tRNA gene mutations represent a complex area of human genetic disease.
  • Further research into molecular mechanisms, inheritance patterns, and disease models is essential for developing effective therapies.
  • Understanding these mutations is critical for patient diagnosis, genetic counseling, and therapeutic development.