Format

Send to

Choose Destination
Trends Neurosci. 2001 Mar;24(3):182-8.

Loss of normal huntingtin function: new developments in Huntington's disease research.

Author information

1
Institute of Pharmacological Sciences, Università di Milano, Via Balzaretti 9, 20133 Milano, Italy. elena.cattaneo@unimi.it

Abstract

Huntington's disease is characterized by a loss of brain striatal neurons that occurs as a consequence of an expansion of a CAG repeat in the huntingtin protein. The resulting extended polyglutamine stretch confers a deleterious gain-of-function to the protein. Analysis of the mutant protein has attracted most of the research activity in the field, however re-examination of earlier data and new results on the beneficial functions of normal huntingtin indicate that loss of the normal protein function might actually equally contribute to the pathology. Thus, complete elucidation of the physiological role(s) of huntingtin and its mode of action are essential and could lead to new therapeutic approaches.

PMID:
11182459
DOI:
10.1016/s0166-2236(00)01721-5
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center