Understanding the role of aggregates in Huntington's disease
Daniel O’Reilly | Khvorova Lab | Hereditary Disease Foundation Sward
Huntington’s disease (HD) is caused by a defect in the Huntingtin (HTT) gene involving the expansion of a DNA segment, called “CAG,” that repeats multiple times in a row. Over time, CAG repeat length can undergo further expansion, which produces a short protein (HTT1a) that may form aggregates. Whether eliminating HTT1a can delay HD is unknown. Utilizing novel RNA drugs that can “silence” HTT1a or machinery involved in CAG repeat expansion, Dr. O’Reilly will study the contributions of CAG expansion and HTT1a to aggregate formation and disease progression in mouse models of HD. His findings may identify effective HD treatments.
