Analýza zánětlivých biomarkerů v transgenním miniprasečím modelu pro Huntingtonovu nemoc

Valeková, Ivona

Huntington's disease (HD) is an inherited monogenic neuropsychiatric degenerative, progressive, and fatal condition. The disease onset is in middle age of the patient. The most prominent clinical features are motor impairment, progressive decline in cognitive functions, and personality changes. Any preventive or disease-modifying therapies are not available so far. Therapeutic interventions can only target symptoms. It is believed that the primary pathology of HD results from massive degeneration of neurons in the basal ganglia. However, the expression of mutant huntingtin was detected in all tissues. Thus the mutation in non- neuronal cells of the brain and in peripheral tissues contributes to the pathology of HD. Neuroinflammation, especially microglia activation, is involved in the pathogenesis of HD. Given evidence that mutated huntingtin is expressed in peripheral immune cells, it is possible that inflammatory changes detected in peripheral tissues may reflect the inflammatory process in central nervous system (CNS). Several recent studies indicated that the immune system could act as a modifier of HD neuropathology. In order to monitor the success of any disease- modifying drugs in the pre-manifest stage of HD it is important to identify robust biomarkers of the onset and disease progression....

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