Determination of a key processing enzyme in Huntington’s disease – a case study with BioFocus

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Application notes


Huntington’s disease (HD) is a neurodegenerative disorder caused by mutation of a single gene. The mutation
is dominantly inherited with the disease affecting successive generations of afflicted families. HD has its onset usually in midlife, starting with a motor disorder such as chorea or the inability to sustain voluntary movements. The disease progresses with behavioral and cognitive symptoms, often manifested as delusional behavior, poor concentration, apathy, depression, dementia, and ultimately premature death. Although to date there is no cure to the disease, discovery of the mutant huntingtin gene (mHtt) in 1993 has enabled significant progress to the
understanding of the underlying disease mechanism. Studies aimed at developing a therapy are currently underway