AI Article Synopsis
- - The study focuses on how the CAG repeat expansion in the HD gene is the main cause of Huntington's disease (HD) and largely influences when the disease starts.
- - Researchers looked for genetic markers in several genes (GRIK2, TBP, BDNF, HIP1, and ZDHHC17) to see if they could affect the age of onset for HD by analyzing a group of 980 European patients.
- - Despite identifying some variations in the ZDHHC17 gene and others, the study concluded that none of these genes acted as significant genetic modifiers influencing the age at which Huntington's disease manifests.
Article Abstract
The expansion of a polymorphic CAG repeat in the HD gene encoding huntingtin has been identified as the major cause of Huntington's disease (HD) and determines 42-73% of the variance in the age-at-onset of the disease. Polymorphisms in huntingtin interacting or associated genes are thought to modify the course of the disease. To identify genetic modifiers influencing the age at disease onset, we searched for polymorphic markers in the GRIK2, TBP, BDNF, HIP1 and ZDHHC17 genes and analysed seven of them by association studies in 980 independent European HD patients. Screening for unknown sequence variations we found besides several silent variations three polymorphisms in the ZDHHC17 gene. These and polymorphisms in the GRIK2, TBP and BDNF genes were analysed with respect to their association with the HD age-at-onset. Although some of the factors have been defined as genetic modifier factors in previous studies, none of the genes encoding GRIK2, TBP, BDNF and ZDHHC17 could be identified as a genetic modifier for HD.
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| http://dx.doi.org/10.1007/s00439-006-0221-2 | DOI Listing |
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Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease.
Hum Genet
September 2006
Department of Medical Genetics, University of Tübingen, Calwerstrasse 7, 72076, Tübingen, Germany.
Article Synopsis
- - The study focuses on how the CAG repeat expansion in the HD gene is the main cause of Huntington's disease (HD) and largely influences when the disease starts.
- - Researchers looked for genetic markers in several genes (GRIK2, TBP, BDNF, HIP1, and ZDHHC17) to see if they could affect the age of onset for HD by analyzing a group of 980 European patients.
- - Despite identifying some variations in the ZDHHC17 gene and others, the study concluded that none of these genes acted as significant genetic modifiers influencing the age at which Huntington's disease manifests.
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