Characterization of energy metabolism phenotypes in GALT-null rats Open Access

Abstract

Classic galactosemia (GC) is an autosomal recessive disorder that results from deficiency of Galactose-1-phosphate uridylyltransferease (GALT), the middle enzyme in the Leloir pathway of galactose metabolism. CG has been associated with a range of acute and long-term complications, including delays in both cognitive and physical development. The goal of the following studies was to test whether GALT-null rats exhibit phenotypes relating to energy metabolism. To answer this question, we tested GALT-null Sprague Dawley rats in an attempt to characterize the model’s growth rate, food consumption habits, and liver glycogen content. Our results suggest that GALT-null rats experience delayed growth, that smaller body weight is not accounted for by decreased food intake, and that livers from male, but not female, GALT-null rats contain less glycogen. Combined, these data suggest that GALT deficiency has a subtle, but potentially significant, impact on energy metabolism in rats. Additionally, the results described here suggest certain parallels between the model and patients and suggest that the rat may be a suitable model to study the underlying mechanisms of GALT deficiency and test possible interventions for CG.

Table of Contents

Chapter 1: Overview of classic galactosemia and galactose metabolism                               Pg. 1

Chapter 2: Investigation of growth phenotype exhibited in GALT-null Rats                         Pg. 7

Chapter 3: Investigation of the effect of lactose in the diet of GALT-null Rats                     Pg. 17

Chapter 4: Investigation into the liver’s glycogen content in GALT-null rats                        Pg. 27

Chapter 5: General Discussion                                                                                               Pg. 38

About this Honors Thesis

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School	Emory College
Department	Biology
Degree	B.S.
Submission	Honors Thesis
Language	English
Research Field	Biology, Genetics
Keyword	Classic galactosemia GALT
Committee Chair / Thesis Advisor	Dr. Judith Fridovich-Keil, Emory University
Committee Members	Dr. Matthew Weinschenk, Emory University Dr. Nicole Gerardo, Emory University

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