Human mitochondrial transfer RNAs: role of pathogenic mutation in disease.

Abstract excerpt

The human mitochondrial genome encodes 13 proteins. All are subunits of the respiratory chain complexes involved in energy metabolism. These proteins are translated by a set of 22 mitochondrial transfer RNAs (tRNAs) that are required for codon reading. Human mitochondrial tRNA genes are hotspots for pathogenic mutations and have attracted interest over the last two decades with the rapid discovery of point...

Topics

• Humans
• Mitochondrial Diseases
• Mutation
• RNA
• RNA, Mitochondrial
• RNA, Transfer