Synthesis and properties of the anticodon stem-loop of human mitochondrial tRNAMet containing the disease-related G or m1G nucleosides at position 37

A single point mutation (A4435G) in the human mitochondrial tRNA(Met) (hmt-tRNA(Met)) gene causes severe mitochondrial disorders associated with hypertension, type 2 diabetes and LHON. This mutation leads to the exchange of A(37) in the anticodon loop of hmt-tRNA(Met) for G(37) and 1-methylguanosine (m(1)G(37)). Here we present the first synthesis and structural/biophysical studies of the anticodon stem and loop of pathogenic hmt-tRNAs(Met).

Automated summary

A single point mutation in the human mitochondrial tRNA(Met) gene causes severe mitochondrial disorders associated with hypertension, type 2 diabetes and LHON. This mutation leads to the exchange of A(37) in the anticodon loop of hmt-tRNA(Met) for G(37) and 1-methylguanosine. The first synthesis and structural/biophysical studies of the anticodon stem and loop of pathogenic hmt-tRNAs(Met) are presented here.