Date Approved


Embargo Period


Document Type


Degree Name

M.S. Bioinformatics


Molecular and Cellular Biology


College of Science & Mathematics


Ileana Soto-Reyes, Ph.D.

Committee Member 1

Benjamin Carone, Ph.D.

Committee Member 2

Cristina Iftode, Ph.D.


neurodegenerative disorder, lysosomal, neurological, Niemann-pick, NPC, recessive mutations


Genetics; Nervous system--Diseases


Bioinformatics | Biology


Niemann-Pick Type C (NPC) is a recessive neurodegenerative lysosomal storage disorder that is caused by autosomal recessive mutations. The mutations result in the inactivation of NPC1 and NPC2 proteins. Inactivation of the NPC1 protein results in the accumulation of cholesterol within the endosomal and lysosomal compartments of cells including Cerebellar Purkinje cells. This accumulation of cholesterol leads to symptoms of dementia, neurodegeneration and potential of early childhood death in cases of early onset. In this study, we analyze the gene expression levels using the RNAseq technique in order to determine whether there is a significant difference between the expression of genes found in the cerebellum of Niemann-pick type C and wild type mouse models during development. Sholl Analysis of the dendritic tree from Purkinje cells in an NPC1 mouse model showed an increase in size and branching at P14 when compared to the size and branching of the Wild-Type (WT) mouse. RNA gene expression analysis indicated significantly upregulated and downregulated genes in the NPC mouse models when compared to WT mouse models. There were no significant gene ontology results from the downregulated genes, but among the upregulated genes, significant changes in biological processes involving inflammatory responses were found.