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

Chem Commun (Camb). 2021 Nov 23;57(93):12540-12543. doi: 10.1039/d1cc05215b.

Abstract

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.

MeSH terms

  • Codon
  • Diabetes Mellitus, Type 2 / genetics
  • Diabetes Mellitus, Type 2 / pathology
  • Guanosine / analogs & derivatives*
  • Guanosine / chemistry*
  • Humans
  • Hypertension / genetics
  • Hypertension / pathology
  • Mitochondria / metabolism*
  • Nucleic Acid Conformation
  • Optic Atrophy, Hereditary, Leber / genetics
  • Optic Atrophy, Hereditary, Leber / pathology
  • RNA, Transfer, Met / chemistry
  • RNA, Transfer, Met / genetics*

Substances

  • Codon
  • RNA, Transfer, Met
  • Guanosine
  • 1-methylguanosine