Biomedical Sciences ETDs

Publication Date

Summer 7-15-2018

Abstract

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 for its contribution to a devastating disease, may unlock a new understanding of human metabolism.

Keywords

Niemann-Pick, Obesity, Diabetes, Epistasis, Evolution

Document Type

Dissertation

Language

English

Degree Name

Biomedical Sciences

Level of Degree

Doctoral

Department Name

Biomedical Sciences Graduate Program

First Committee Member (Chair)

William Sherman Garver, PhD

Second Committee Member

Randall A Heidenreich, MD

Third Committee Member

Vallabh Raj Shah, PhD

Fourth Committee Member

Robert Orlando, PhD

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