Article
CAG expansion affects the expression of mutant Huntingtin in the Huntington's disease brain.
Neuron - 1 Nov 1995
Aronin N, Chase K, Young C, Sapp E, Schwarz C, Matta N, Kornreich R, Landwehrmeyer B, Bird E, Beal M F
Abstract excerpt
A trinucleotide repeat (CAG) expansion in the huntingtin gene causes Huntington's disease (HD). In brain tissue from HD heterozygotes with adult onset and more clinically severe juvenile onset, where the largest expansions occur, a mutant protein of equivalent intensity to wild-type huntingtin was detected in cortical synaptosomes, indicating that a mutant species is synthesized and transported with the normal...
Topics
- Adult
- Aged
- Aged, 80 and over
- Brain
- Cerebellum
- Cerebral Cortex
- Female
- Gene Expression
- Humans
- Huntingtin Protein
- Huntington Disease
- Male