The cultured fibroblast model
Cultured skin fibroblasts have been successfully used to elucidate the molecular and biochemical bases of a large number of inborn errors of metabolism which cause neurological disease. The fibroblast model is now being extended to studies of genetic diseases of the nervous system with later clinical onset, including Alzheimer’s Disease (AD). Persistence in the cultured cells of an abnormality found in AD brain provides evidence that the abnormality in brain is not simply a reflection of anatomic or chemical damage in the clinically affected tissue. Biochemical and cell biological studies of AD fibroblasts are succeeding in implicating molecules which warrant further study at the molecular genetic level. In neurological diseases with an important genetic component, including AD, studies of fibroblasts can be a useful adjunct to studies of brain.
KeywordsPhytanic Acid Inborn Error Cell Biological Study Cumulative Population Doubling Level Important Genetic Component
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