10 papers analyzed
These studies suggest that mutant huntingtin contributes to Huntington's disease through mechanisms such as immune dysfunction, mitochondrial impairment, disrupted intracellular transport, and toxic interactions with cellular proteins, leading to neurodegeneration and potential therapeutic targets.
Huntington's disease (HD) is a neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the huntingtin (HTT) gene, leading to the production of a mutant huntingtin protein. This mutant protein is implicated in various cellular dysfunctions that contribute to the pathogenesis of HD.
Impaired Immune Cell Function:
Mitochondrial Dysfunction:
Severity of Phenotype:
Protein Interactions and Cellular Transport:
Transcriptional Dysregulation:
Therapeutic Approaches:
Mutant huntingtin affects Huntington's disease through multiple mechanisms, including impaired immune cell function, mitochondrial dysfunction, abnormal protein interactions, disrupted cellular transport, and transcriptional dysregulation. These insights highlight the complexity of HD pathogenesis and suggest multiple potential therapeutic targets to mitigate the effects of the mutant protein.
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