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A single point mutation (A4435G) in the human mitochondrial tRNAMet (hmt-tRNAMet) gene causes severe mitochondrial disorders associated with hypertension, type 2 diabetes and LHON. This mutation leads to the exchange of A37 in the anticodon loop of hmt-tRNAMet for G37 and 1-methylguanosine (m1G37). Here we present the first synthesis and structural/biophysical studies of the anticodon stem and loop of pathogenic hmt-tRNAsMet.

Citation

Karolina Podskoczyj, Katarzyna Kulik, Joanna Wasko, Barbara Nawrot, Tsutomu Suzuki, Grazyna Leszczynska. Synthesis and properties of the anticodon stem-loop of human mitochondrial tRNAMet containing the disease-related G or m1G nucleosides at position 37. Chemical communications (Cambridge, England). 2021 Nov 23;57(93):12540-12543

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PMID: 34755158

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