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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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Impaired brain creatine kinase activity in Huntington's disease.

S F Zhang1, T Hennessey, L Yang

  • 1Department of Neurology and Neuroscience, Weill Medical College of Cornell University, New York, NY 10065, USA.

Neuro-Degenerative Diseases
|December 3, 2010
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Summary

Huntington's disease impairs brain energy metabolism by reducing creatine kinase (CK) activity. This affects the ATP-buffering system, crucial for neuronal function and potentially contributing to HD's development.

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Area of Science:

  • Neuroscience
  • Biochemistry
  • Neurodegenerative Diseases

Background:

  • Huntington's disease (HD) is linked to impaired brain energy metabolism.
  • The creatine kinase (CK) system, comprising creatine (Cr) and phosphocreatine (PCr), is vital for ATP buffering in the brain.
  • This system relies on cytosolic BB-CK and mitochondrial uMt-CK enzymes.

Purpose of the Study:

  • To investigate whether CK isoenzyme activity is impaired in Huntington's disease.
  • To assess the role of the Cr/PCr ATP-buffering system in HD pathogenesis.

Main Methods:

  • Analyzed PCr, Cr, ATP, and ADP levels in brain extracts from three mouse models of HD (R6/2, N171-82Q, HdhQ(111)).
  • Measured CK activity in cytosolic and mitochondrial brain fractions from these mouse models.
  • Compared CK activity in human HD brain samples with non-diseased controls.

Main Results:

  • PCr levels were elevated in mouse HD brain extracts.
  • CK activity showed a significant decrease (approx. 27%) in cytosolic and mitochondrial fractions of R6/2 and N171-82Q mice.
  • Mitochondrial CK activity decreased by approx. 25% in HdhQ(111) mice.
  • BB-CK and uMt-CK activities were substantially lower (approx. 63%) in human HD brain samples.

Conclusions:

  • Findings support the role of impaired energy metabolism in HD.
  • The study highlights the potential significance of impaired CK-catalyzed ATP buffering in the etiology of Huntington's disease.