Huntington's Disease: Mechanisms of Pathogenesis and Therapeutic Strategies.
Underwood, Benjamin R
Rubinsztein, David C
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.
Online Publication Date
Gene Expression Regulation, Humans, Huntingtin Protein, Huntington Disease, Nerve Tissue Proteins, Nuclear Proteins, Trinucleotide Repeats
Cold Spring Harb Perspect Med
Cold Spring Harbor Laboratory
Medical Research Council (MC_G1000734)