About Huntington's Disease
Huntington’s disease (HD) is a genetic disorder characterized by the depletion of neurons and an increased number of glial cells in the region of the brain critical for movement, memory, and decision-making. Thus, HD usually results in movement, thinking (cognitive) and psychiatric disorders. The prevalence of HD is 1 in every 10,000 people. HD is result of an abnormal expansion of a CAG genetic element in the Huntingtin (HTT) gene that leads to production of a polyglutamine (polyQ) repeat expansion within the HTT protein, which causes neuron degeneration. Non-affected individuals have between 7-34 CAG repeats, while Individuals with HD have one normal gene and a diseased gene with ≥40 repeats.
Therapeutic strategies directly targeting total HTT RNA (healthy and disease RNAs), such as antisense oligonucleotides (ASO), have produced promising results. However, if selective reduction of mutant HTT expression is not accomplished, it is still unclear whether elimination of the normal HTT RNA would lead to adverse consequences
Enzerna is currently developing ASRE therapeutics that can mediate targeted degradation of RNA produced by the diseased HTT gene (an “allele-specific” ASRE).