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Inducible pluripotent stem cells, neuronal and glial models of neurodegenerative disease
Rapid-onset dystonia-parkinsonism is a rare, inherited, neurological disorder. The disease is characterized by a sudden start of involuntary, sustained dystonic muscle contractions of the face, mouth, pharynx and upper limbs as well as slowness of movement and balance problems typical of parkinsonism. The onset is often triggered by a stressful event, such as infection, childbirth or prolonged exercise. The age of onset varies widely but is typically in late puberty or early adulthood. There is currently no cure available. Although the disease gene was identified in 2004, the disease mechanism underlying rapid-onset dystonia-parkinsonism is still poorly understood. Knowledge of the disease mechanism will significantly impact our understanding of dystonia and Parkinson’s disease as well as allow development of a therapy for rapid-onset dystonia-parkinsonism. The biggest barrier to research on this disease has been the inaccessibility of neuronal cells from patients that can be cultured and studied in the laboratory. Therefore, we propose to take advantage of a new technique in which skin cell cultures derived from patients are changed into stem cells in the laboratory. The stem cells can subsequently be converted into any cell type. We will convert the stem cells into neuronal cells because rapid-onset dystonia-parkinsonism affects neuronal tissues. Thus, our proposal provides a unique opportunity to study neuronal cell cultures from patients with rapid-onset dystonia-parkinsonism in detail in the laboratory. This work will open the door to a thorough investigation of the disease mechanism of rapid-onset dystonia-parkinsonism in the type of cell that is affected in patients. In addition, these patient-derived neuronal cell cultures may be used to screen for drugs.
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