Huntington’s Disease: Mechanisms of Pathogenesis and Therapeutic Strategies
- 1Department of Medical Genetics, University of Cambridge, Cambridge Institute for Medical Research, Addenbrooke’s Hospital, Cambridge CB2 0XY, United Kingdom
- 2Department of Old Age Psychiatry, Beechcroft, Fulbourn Hospital, Cambridge CB21 5EF, United Kingdom
- Correspondence: dcr1000{at}hermes.cam.ac.uk
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↵3 These authors contributed equally to this work.
Abstract
Huntington's disease is a late-onset neurodegenerative disease caused by a CAG trinucleotide repeat in the gene encoding the huntingtin protein. Despite its well-defined genetic origin, the molecular and cellular mechanisms underlying the disease are unclear and complex. Here, we review some of the currently known functions of the wild-type huntingtin protein and discuss the deleterious effects that arise from the expansion of the CAG repeats, which are translated into an abnormally long polyglutamine tract. Finally, we outline some of the therapeutic strategies that are currently being pursued to slow down the disease.
