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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,...
Parkinson Disease ll: Pathophysiology01:24

Parkinson Disease ll: Pathophysiology

Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...
Alterations in Muscle Tone lll01:11

Alterations in Muscle Tone lll

Rigidity and myotonia are distinct abnormalities of muscle tone that affect resistance and relaxation during movement. Although both involve altered muscle contraction, they arise from different neurological and muscular mechanisms.CharacteristicsRigidity is characterized by uniform resistance to passive movement across the entire range, independent of speed, affecting flexors and extensors equally. It may appear as lead-pipe rigidity (smooth, constant resistance) or cogwheel rigidity...
Mitochondrial Membranes01:45

Mitochondrial Membranes

A single mitochondrion is a bean-shaped organelle enclosed by a double-membrane system. The outer membrane of mitochondria is smooth and contains many porins - the integral membrane transporters. Porins enable free diffusion of ions and small uncharged molecules through the outer mitochondrial membrane but limit the transport of molecules larger than 5000 Daltons. Further, the outer mitochondrial membrane forms a unique structure called membrane contact sites with other subcellular organelles,...
Parkinson Disease l: Introduction01:24

Parkinson Disease l: Introduction

Parkinson’s disease is a chronic, progressive neurodegenerative disorder that primarily affects movement. It is characterized by motor symptoms such as resting tremors, muscle rigidity, bradykinesia (slowness of movement), and postural instability. Patients may notice hand tremors at rest, stiffness during movement, or a shuffling gait. In addition to motor features, non-motor symptoms include sleep disturbances, mood and behavioral changes, constipation, and cognitive impairment, all of which...
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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,...

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Histological Examination of Mitochondrial Morphology in a Parkinson's Disease Model
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Mitochondrial loss, dysfunction and altered dynamics in Huntington's disease.

Jinho Kim1, Jennifer P Moody, Christina K Edgerly

  • 1Geriatric Research Education Clinical Center, New England Veterans Administration VISN 1, Bedford, MA 01730, USA.

Human Molecular Genetics
|July 28, 2010
PubMed
Summary

Huntington's disease (HD) involves mitochondrial dysfunction, characterized by reduced mitochondria and altered mitochondrial dynamics in affected neurons. This study confirms mitochondrial loss and changes in fission/fusion proteins contribute to HD pathogenesis.

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Area of Science:

  • Neuroscience
  • Cell Biology
  • Mitochondrial Biology

Background:

  • Huntington's disease (HD) pathogenesis involves neurodegeneration, with mitochondrial dysfunction implicated.
  • The precise mechanisms linking gene mutation to neuronal loss in HD remain unclear.

Purpose of the Study:

  • To investigate mitochondrial alterations in striatal neurons of Huntington's disease patients.
  • To examine mitochondrial number, morphology, dynamics, and gene expression in relation to disease severity.

Main Methods:

  • Immunofluorescence staining for mitochondrial markers (COX2, SOD2, cytochrome c) and neuronal markers (calbindin) in HD patient brain tissue.
  • Western blot analysis for COX2 protein levels.
  • Analysis of mitochondrial transcription factor A and PGC-1α expression.
  • Assessment of mitochondrial fission (Drp1) and fusion (mitofusin 1) protein levels.
  • Mitochondrial PCR array profiling of the caudate nucleus.

Main Results:

  • Progressive, grade-dependent reduction in mitochondrial number and altered size in striatal neurons of HD patients.
  • Decreased COX2 protein levels, mitochondrial transcription factor A, and PGC-1α correlated with disease severity.
  • Increased expression of the mitochondrial fission protein Drp1 and reduced expression of the fusion protein mitofusin 1 were observed.
  • Mitochondrial PCR array revealed altered mRNA expression of proteins involved in mitochondrial function and transport.

Conclusions:

  • Mitochondrial loss and altered mitochondrial morphogenesis, including increased fission and reduced fusion, are significant features of Huntington's disease.
  • These findings provide strong evidence for a critical role of mitochondrial dysfunction in HD pathogenesis.