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Related Concept Videos

Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
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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...
Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
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Translation01:31

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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 Life
Translation01:31

Translation

Lesson: Translation
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Related Experiment Video

Updated: Jun 29, 2026

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle
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Friedreich ataxia.

Massimo Pandolfo1

  • 1Service de Neurologie, Erasme Hospital, Brussels Free University, Route de Lennik 808, B-1070, Brussels, Belgium. massimo.pandolfo@ulb.ac.be

Archives of Neurology
|October 15, 2008
PubMed
Summary

Friedreich ataxia is a rare genetic disorder affecting the nervous system and heart. Understanding its genetics and pathogenesis is key to developing new treatments for this degenerative disease.

Area of Science:

  • Neurology
  • Genetics
  • Cardiology

Background:

  • Friedreich ataxia is an autosomal recessive degenerative disorder.
  • It primarily impacts the nervous system and heart.
  • First described in the 19th century, its full scope was revealed with genetic testing in 1996.

Purpose of the Study:

  • To review current knowledge of Friedreich ataxia.
  • To discuss the unraveling of its complex pathogenesis.
  • To explore how this knowledge aids therapeutic development.

Main Methods:

  • Literature review of Friedreich ataxia research.
  • Analysis of genetic epidemiology data.
  • Synthesis of pathogenesis insights.

Main Results:

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A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

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Published on: September 16, 2019

  • Friedreich ataxia is a complex neurodegenerative and cardiac disease.
  • Genetic testing has been crucial for understanding its phenotype and epidemiology.
  • Pathogenesis research is advancing therapeutic strategies.

Conclusions:

  • Continued research into Friedreich ataxia pathogenesis is vital.
  • Genetic insights are driving the development of targeted therapies.
  • A comprehensive understanding is essential for effective treatment of this rare disease.