Defects in RNA metabolism in mitochondrial disease.

Abstract excerpt

The expression of mitochondrially-encoded genes requires the efficient processing of long precursor RNAs at the 5' and 3' ends of tRNAs, a process which, when disrupted, results in disease. Two such mutations reside within mt-tRNALeu(UUR); a m.3243A>G transition, which is the most common cause of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes), and m.3302A>G which often...

Topics

• Cells, Cultured
• Humans
• Mitochondrial Diseases
• Mutation
• RNA
• RNA Processing, Post-Transcriptional
• RNA, Mitochondrial
• Sequence Analysis, RNA