Huntington's disease: CAG genetics expands neurobiology.
Huntington's disease, with its progressive uncontrolled movements and characteristic selective neuropathology, has represented a baffling enigma to geneticists and neurobiologists alike. Discovery of the HD gene and its defect has demystified the genetic aspects of the disorder, but has not yet explained its pathogenesis. Attempts to explore this issue suggest that the defect acts as a gain of function, conferring a new deleterious property on the huntingtin protein, and that the gene's normal function may be irrelevant to the disease process.
Gusella
J F
JF
Molecular Neurogenetics Unit, Massachusetts General Hospital East, Charlestown 02129, USA.
MacDonald
M E
ME
D000595:Amino Acid Sequence; D000818:Animals; D006801:Humans; D006816:Huntington Disease / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D012091:Repetitive Sequences, Nucleic Acid