Recent advances on the pathogenesis of Huntington's disease
1999 (English)In: Experimental Neurology, ISSN 0014-4886, E-ISSN 1090-2430, Vol. 157, no 1, 1-18 p.Article in journal (Refereed) Published
We review recent advances regarding the pathogenesis of Huntington's disease (HD). This genetic neurodegenerative disorder is caused by an expanded CAG repeat in a gene coding for a protein, with unknown function, called huntingtin. There is selective death of striatal and cortical neurons. Both in patients and a transgenic mouse model of the disease, neuronal intranuclear inclusions, immunoreactive for huntingtin and ubiquitin, develop. Huntingtin interacts with the proteins GAPDH, HAP-1, HIP1, HIP2, and calmodulin, and a mutant huntingtin is specifically cleaved by the proapoptotic enzyme caspase 3. The pathogenetic mechanism is not known, but it is presumed that there is a toxic gain of function of the mutant huntingtin. Circumstantial evidence suggests that excitotoxicity, oxidative stress, impaired energy metabolism, and apoptosis play a role.
Place, publisher, year, edition, pages
1999. Vol. 157, no 1, 1-18 p.
Abdominal aortic aneurysm, Cost-effectiveness, EVAR, Gender, Open repair, Quality of life, Screening
Medical and Health Sciences
IdentifiersURN: urn:nbn:se:uu:diva-164385DOI: 10.1006/exnr.1998.7006PubMedID: 10222105OAI: oai:DiVA.org:uu-164385DiVA: diva2:467863