A SNP in the HTT promoter alters NF-[kappa]B binding and is a bidirectional genetic modifier of Huntington disease
2015
Huntington disease (HD) is an incurable neurodegenerative disease. A SNP in the huntingtin promoter impaired NF-κB binding and acted as a bidirectional modifier of disease onset. Presence of the SNP on the mutant allele associated with delayed age of onset, while the SNP on the wild-type HTT allele associated with accelerated age of onset. These findings have direct therapeutic implications.
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