Date of Graduation

5-2020

Document Type

Thesis

Degree Name

Bachelor of Science

Degree Level

Undergraduate

Department

Biological Sciences

Advisor/Mentor

Iyer, Shilpa

Committee Member/Reader

Lehmann, Michael

Committee Member/Second Reader

Millet, Frank

Committee Member/Third Reader

Marren, Susan

Abstract

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is one of the most common disorders associated with mitochondrial tRNA mutations. One of the most common causes of MELAS is mutation in the MT-TL1 gene which codes for mitochondrial tRNA Leucine (UUR). Mutation in MT-TE gene, another mitochondrial gene which encodes for mitochondrial tRNA Glutamate (GAA/G), has been implicated in various mitochondrial related myopathies. It remains unclear how point mutations in these tRNA genes result in disease onset and progression. Here, we report an early comparative analysis of fibroblast cell lines derived from patients carrying two different tRNA mutations: m.3243A>G and m.14739G>A. This study examines the relationship between mitochondrial structure and function as it relates to disease onset and severity. Morphological analysis revealed differences in network structure between the tRNA mutant and control cell lines. This was correlated with a decrease in mitochondrial function as indicated by aberrant mitochondrial membrane potential and Reactive Oxygen species production. Results from this study suggests that mitochondrial tRNA mutations can result in dysregulation of mitochondrial morphology, consequently affecting mitochondrial function.

Keywords

Mitochondrial disease; MELAS; Mitochondrial Network; Mitochondrial Function

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