PGC-1α Gene and Huntington's Disease Onset
Author Information
Author(s): Weydt Patrick, Soyal Selma M, Gellera Cinzia, DiDonato Stefano, Weidinger Claus, Oberkofler Hannes, Landwehrmeyer G Bernhard, Patsch Wolfgang
Hypothesis
PPARGC1A polymorphisms are associated with the age at onset in Huntington's disease patients.
Conclusion
The study found that certain haplotypes of the PGC-1α gene are associated with a delay in the onset of Huntington's disease symptoms.
Supporting Evidence
- Homozygosity for the 'protective' block 2 haplotype was associated with a significant delay in disease onset.
- The mean age at onset was 48.9 years among the participants.
- The study identified two haplotype blocks in the PPARGC1A gene that influence age at onset.
Takeaway
This study shows that a specific gene can affect how early people get sick with Huntington's disease.
Methodology
The study analyzed genetic data from 447 unrelated Huntington's disease patients to assess the association between PGC-1α haplotypes and age at onset.
Limitations
The study is limited to a specific population and may not generalize to all Huntington's disease patients.
Participant Demographics
The cohort included 215 male and 234 female unrelated HD patients.
Statistical Information
P-Value
0.0025
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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