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