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Niemann-Pick C1, Its Connection To Obesity, And Its Impact On Human Evolution, Joseph Joshua Castillo

Biomedical Sciences ETDs

Niemann-Pick type-C disease is a rare autosomal recessive neurodegenerative disease that classically presents in the first decade, leading to ataxia, vertical-gaze palsy, loss of communication skills, epileptic seizures, and eventually death. The stark reality about NPC disease underlines the important role the NPC1 protein plays in whole-body lipid homeostasis. It is no surprise, then, that the NPC1 gene has been associated with other diseases as well, such as obesity, diabetes, and Ebola virus infection. In this manuscript, a connection will be made that intertwines genetics, biochemical and molecular mechanisms, physiology, and evolutionary pressures, and will explain how a gene, discovered …