Genetic analysis of polymorphisms in the kalirin gene for association with age-at-onset in European Huntington disease patients.

ABSTRACT:

Background

Huntington disease (HD) is caused by an expanded CAG repeat in the HD gene. Although the length of the CAG repeat strongly correlates with the age-at-onset (AAO), AAO in HD individuals may differ dramatically in spite of similar expanded CAG repeat lengths. Additional genetic or environmental factors are thought to influence the disease onset. Several modifier genes have been discovered so far but they do not fully explain the variability of AAO in HD. To potentially identify a novel genetic modifier, we analyzed single nucleotide polymorphisms (SNPs) in the kalirin (KALRN) gene. Kalirin is a protein crucially involved in spine plasticity and its interaction with huntingtin-associated protein-1 (HAP-1) and a potential protein dysfunction might contribute to spine pathoge

SUBMITTER: Tsai YC 

PROVIDER: S-EPMC3433364 | biostudies-literature | 2012 Jun

REPOSITORIES: biostudies-literature