Key result
Expanded CAG repeat length shows no association with steady state HTT mRNA and protein levels.
Why the study?
Whether the expanded CAG repeat mutation in HTT influences mRNA and protein expression levels from the disease allele was unclear due to lack of sensitive allele-specific quantification methods and confounding factors.
A cis-regulatory effect of the expanded CAG repeat is not a critical component of the underlying mechanism of Huntington's disease, as mutant and normal allele products are balanced.
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Questions cis-regulatory CAG effects in HD models; leaves open relevance to human allele expression.
Shin et al. (2017) studied Huntington's disease. Expanded CAG repeat length vs. Normal alleles was evaluated on Steady state levels of HTT mRNA and protein. Expanded CAG repeat length was not associated with steady state levels of HTT mRNA and protein, as products of mutant and normal alleles were balanced.
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