The Protein With Big Impact
Huntington’s disease (HD) is caused by a cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the huntingtin gene (HTT ), which leads to the production of the mutant huntingtin (mHTT) protein. The degree of symptom severity, disease stage, and markers of neuronal damage have been shown to correlate with levels of mHTT protein in the cerebrospinal fluid in patients with HD. This toxic mHTT protein production is believed to result in neurotoxicity, as normal cellular processes important for cellular survival are disrupted.1,2
How is the understanding of the mHTT protein helping further HD research?
Hear from researchers Nancy Wexler and Lauren Byrne on why the identification of the fundamental cause of Huntington’s disease was so significant, and how that finding informs today’s research.