Hunting of Huntington's Disease
A special issue of Metabolites (ISSN 2218-1989). This special issue belongs to the section "Cell Metabolism".
Deadline for manuscript submissions: closed (31 January 2023) | Viewed by 6519
Special Issue Editors
Interests: energy metabolism; animal models; huntington’s disease; neurodegener-ative diseases; heart; skeletal muscle
Special Issues, Collections and Topics in MDPI journals
Interests: neurodegeneration; stem cells; purinergic signaling; Huntington’s disease, neurodevelopment
Special Issue Information
Dear Colleagues,
Huntington’s disease (HD) is a multisystem disorder with fatal neurodegenerative outcomes. It is caused by expanded CAG repeats within the exon-1 of the huntingtin (HTT) gene. The elongation of the polyglutamine stretch in exon 1 HTT leads to the formation of insoluble huntingtin aggregates, which are observed in both the early and advanced stages of the disease. In the CNS, mHTT mainly affects the basal ganglia region of the encephalon; this is the main region for voluntary and involuntary motor control, as well as cognition. This mutant protein sensitizes GABAergic neurons, making them vulnerable to NDMA-induced excitotoxicity, leading to cell death. Aggregates of the mutated form of HTT (mHTT) have been identified in the brain, as well as the outside central nervous system, e.g., in skeletal muscle. Despite the discovery of this genetic mutation 39 years ago, no effective treatment has yet emerged. This, in part, is related to the disease's complexity.
This Special Issue will highlight new insights into the molecular mechanisms involved in the pathophysiology of HD and HD-related disorders. Moreover, studies that focus on the identification of HD biomarkers, therapeutic targets, and future treatments are also welcome.
Dr. Marta Tomczyk
Dr. Talita Glaser
Dr. Karolina Pierzynowska
Guest Editors
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Keywords
- Huntington’s disease
- molecular mechanisms
- biomarker
- therapy
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