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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
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...
ATP Synthase: Mechanism01:48

ATP Synthase: Mechanism

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 ATP...
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...

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Is mitochondrial tRNA Leu(UUR) 3291T>C mutation pathogenic?

Yu Ding1, Jianhang Leng

  • 1Central Laboratory, Hangzhou First People's Hospital, Hangzhou, People's Republic of China.

Mitochondrial DNA
|April 5, 2012
PubMed
Summary

This study investigated the mitochondrial tRNA(Leu(UUR)) 3291T>C mutation linked to mitochondrial disorders. The mutation showed low conservation and minimal impact on RNA structure, suggesting it does not cause these conditions.

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Area of Science:

  • Mitochondrial genetics
  • Molecular biology
  • Neurogenetics

Background:

  • A maternally inherited Japanese family presented with variable phenotypes, including mitochondrial myopathy, recurrent headache, myoclonus, and epilepsy.
  • These symptoms were previously associated with the mitochondrial tRNA(Leu(UUR)) 3291T>C mutation by Sunami et al.

Purpose of the Study:

  • To re-evaluate the association between the mitochondrial tRNA(Leu(UUR)) 3291T>C mutation and observed clinical phenotypes.
  • To assess the evolutionary conservation and potential structural impact of the 3291T>C mutation on the tRNA(Leu(UUR)) gene.

Main Methods:

  • Re-analysis of clinical and molecular data from Sunami et al.
  • Phylogenetic analysis to determine the mutation's conservation index across species.
  • RNA Fold Web Server utilized to predict the minimum free energy (MFE) of the tRNA(Leu(UUR)) gene with and without the mutation.

Main Results:

  • The 3291T>C mutation exhibited a low level of evolutionary conservation among different species.
  • A slight change in the minimum free energy (MFE) was observed between the wild-type and mutant tRNA(Leu(UUR)) genes.
  • Phylogenetic and structural analyses did not support a significant role for this mutation.

Conclusions:

  • The findings do not support an active role for the mitochondrial tRNA(Leu(UUR)) 3291T>C mutation in the clinical expression of mitochondrial disorders.
  • The previously reported association requires further investigation with alternative genetic or environmental factors.
  • This study highlights the importance of rigorous validation of genotype-phenotype correlations in mitochondrial diseases.