Huntington disease is progressive neurodegenerative disorder leading to muscle coordination problems, loss of motor function, and mental decline. Huntington disease is one of several diseases caused by an increase in the number of CAG repeats within the coding region of the disease gene (in this case the Huntingtin/HTT gene) and subsequent translation of those repeats into an expanded polyglutamine (polyQ) tract in the protein. Fly stocks in the Bloomington collection that can be used to study Huntington disease are listed here.
General information links for Huntington disease:
- OMIM
- NIH's Genetics Home Reference - includes links for the GHR pages on HTT
- NLM/NIH's Genetic and Rare Disease Information Center