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Involves polyglutamate aggregates from mutant forms of huntingtin

User ASkywalker
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Huntington's disease is a neurodegenerative disorder characterized by polyglutamate aggregates in mutant huntingtin, leading to neuron degradation and dysregulation of NMDA receptors. The disease's progression involves harmful cellular pathways activated by increased intracellular calcium levels and potential treatments include glutamate antagonists.

Step-by-step explanation:

Huntington's disease (HD) is an inherited neurodegenerative disorder, characterized by polyglutamate aggregates from mutant forms of the huntingtin protein. These aggregates, due to a genetic mutation, lead to the extended sequence of glutamine residues, affecting the protein's function. This malformation is linked with neuron degradation, particularly GABAergic medium-sized spiny neurons, leading to symptoms such as involuntary movements, cognitive decline, and psychological issues.

The disease is associated with abnormalities in glutamate receptor expression and function, particularly those affecting NMDA receptors. These receptors, when dysregulated, can lead to an increased influx of calcium ions into neurons through extrasynaptic locations, triggering harmful cellular pathways, unlike the beneficial effects caused by synaptic receptor activity. This disruption can result in mitochondrial damage and neuronal cell death, further contributing to the progression of HD.

Research continues to explore potential treatments, including the use of glutamate antagonists, which may help mitigate against the excitotoxic effects caused by the abnormal glutamate receptor activity in Huntington's disease.

User Hanan Shteingart
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