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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,...
Mitochondria01:37

Mitochondria

Mitochondria are eukaryotic cellular organelles that are known to produce energy through a process called oxidative phosphorylation. Besides their primary function, mitochondria are involved in various cellular processes, including cell growth, differentiation, signaling, metabolism, and senescence. Age-related changes cause a decline in mitochondrial quality and integrity due to increased mitochondrial mutations and oxidative damage. Thus, aging can severely impact mitochondrial functions,...
Mitochondria01:37

Mitochondria

Mitochondria are eukaryotic cellular organelles that are known to produce energy through a process called oxidative phosphorylation. Besides their primary function, mitochondria are involved in various cellular processes, including cell growth, differentiation, signaling, metabolism, and senescence. Age-related changes cause a decline in mitochondrial quality and integrity due to increased mitochondrial mutations and oxidative damage. Thus, aging can severely impact mitochondrial functions,...
Translocation of Proteins into the Mitochondria01:19

Translocation of Proteins into the Mitochondria

Mitochondrial precursors are translocated to the internal subcompartments via independent mechanisms involving distinct protein machineries called translocases.
Sorting of outer membrane proteins:
Mitochondrial outer membrane proteins are of two types: the transmembrane, beta-barrel porins, and the membrane-anchored, alpha-helical proteins. Beta-barrel porin precursors are translocated by the TOM complex and inserted into the outer mitochondrial membrane by the SAM complex. In contrast,...
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
Electron Transport Chain: Complex I and II01:46

Electron Transport Chain: Complex I and II

The mitochondrial electron transport chain (ETC) is the main energy generation system in the eukaryotic cells. However, mitochondria also produce cytotoxic reactive oxygen species (ROS) due to the large electron flow during oxidative phosphorylation. While Complex I is one of the primary sources of superoxide radicals, ROS production by Complex II is uncommon and may only be observed in cancer cells with mutated complexes.
ROS generation is regulated and maintained at moderate levels necessary...

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Histological Examination of Mitochondrial Morphology in a Parkinson's Disease Model
06:07

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Published on: June 23, 2023

Mitochondria in Huntington's disease.

Maria Damiano1, Laurie Galvan, Nicole Déglon

  • 1CEA, DSV, I2BM Molecular Imaging Research Center (MIRCen), F-92265 Fontenay-aux-Roses, France.

Biochimica Et Biophysica Acta
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Mitochondrial defects are central to Huntington's disease (HD) neurodegeneration, impacting striatal neurons. Mutant huntingtin protein exacerbates these mitochondrial issues, particularly through neurotransmitter interactions.

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Area of Science:

  • Neuroscience
  • Genetics
  • Cell Biology

Background:

  • Huntington's disease (HD) is an inherited neurodegenerative disorder.
  • It is caused by CAG repeat expansion in the huntingtin gene, leading to toxic huntingtin protein.
  • Striatal medium spiny neuron loss is a key pathological feature.

Purpose of the Study:

  • To review evidence supporting the role of mitochondrial dysfunction in HD.
  • To explore mechanisms linking mutant huntingtin protein to mitochondrial defects.
  • To examine the role of neurotransmitters in striatal vulnerability.

Main Methods:

  • Review of cell culture and animal model studies on mutant huntingtin.
  • Analysis of mitochondrial function markers (Ca2+ buffering, membrane potential, OXPHOS).
  • Investigation of neurotransmitter systems (dopamine, glutamate) and their interaction with mutant huntingtin.

Main Results:

  • Mutant huntingtin causes mitochondrial abnormalities, including reduced Ca2+ buffering and membrane potential.
  • Decreased expression of oxidative phosphorylation enzymes is observed.
  • Neurotransmission, particularly glutamate and dopamine, exacerbates mitochondrial defects and excitotoxicity in striatal neurons.

Conclusions:

  • Mitochondrial dysfunction is a critical factor in striatal degeneration in HD.
  • Neurotransmitter systems modulate mutant huntingtin toxicity via mitochondrial pathways.
  • Mitochondria act as key sensors of the neurochemical environment in HD pathogenesis.