The CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease

Huntington disease (HD) is caused by an expanded HTT CAG repeat that leads in a length-dependent, completely dominant manner to onset of a characteristic movement disorder. HD also displays early mortality, so we tested whether the expanded CAG repeat exerts a dominant influence on age at death and on the duration of clinical disease. We found that, as with clinical onset, HD age at death is determined by expanded CAG-repeat length and has no contribution from the normal CAG allele. Surprisingly, disease duration is independent of the mutation’s length.

Source: The American Journal of Human Genetics - February 4, 2016 Category: Genetics & Stem Cells Authors: Jae Whan Keum, Aram Shin, Tammy Gillis, Jayalakshmi Srinidhi Mysore, Kawther Abu Elneel, Diane Lucente, Tiffany Hadzi, Peter Holmans, Lesley Jones, Michael Orth, Seung Kwak, Marcy E. MacDonald, James F. Gusella, Jong-Min Lee Tags: Article Source Type: research