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Structural And Functional Characterization Of Mitochondria With Trna Mutations, Brooke Henry

Biological Sciences Undergraduate Honors Theses

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 …