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A CASE STUDY : ANALYSIS OF THE MITOCHONDRIAL TRNA-ILE GENE FOR A MUTATION LINKED TO RENAL MAGNESIUM WASTING Student Researcher :

Student Researcher: Brittany M. Brooks, Burke High School, Charleston, South Carolina Mentors: Adam Sieg, Milos Budisaljevic, MD, Michael G. Janech, PhD, Medical University of South Carolina, Department of Medicine; Charleston, South Carolina Single nucleotide point mutations within mitochondrial genes are linked to a number of maternally inherited diseases. Recently, an adult female patient was referred for clinical evaluation at Medical University of South Carolina (MUSC) and presented with hypertension, hypercholesterolemia, and hypomagnesmia. These symptoms are consistent with a known mitochondrial mutation in the isoleucine transfer RNA gene (tRNA-Ile) flanking the anticodon (bp 4293). We hypothesized that the tRNA-Ile mutation underlies the symptoms exhibited by this patient. Using restriction enzyme fragment analysis and cloning techniques, we amplified the mitochondrial tRNA-Ile gene from whole blood. Restriction digestion of this product with Taq1 did not produce a pattern of restriction digestion consistent with the reported mutation. Further, DNA sequence analysis revealed no mutation at tRNA-Ile 4293. A novel mutation was discovered in one of eleven tRNA-Ile PCR clones sequenced and resulted in a T.C transition at nucleotide 4327. Although further confirmation is necessary, these data suggest the possibility of a novel mutation in the mitochondrial tRNA-Ile gene of a patient with low plasma magnesium. Identification of genetic mutations will help us to focus studies of disease mechanisms. INTRODUCTION