Summary:

NameMyoclonus epilepsy, ragged-red fibers (MERRF) (A:m1A)
DescriptionMissing m1A modification on mitochondrial tRNA at the 58 position is associated with the MERRF disease. m1A58 provides a positive charge on tRNA tertiary structure that affect the binding of elongation factor which delivers tRNA to ribosome.
Related RNA reactionA:m1A
Found in RNAmt-tRNA
Modified Transcript
Mapping TechnologyDM-tRNA-seq , tRNA-seq
Quantification techniquesSemi-quantitative RT-PCR

Enzymes connected to this disease:

Acronym Full name Enzyme Role Organism
Trmt61B tRNA (adenine(58)-N(1))-methyltransferase, mitochondrial Homo sapiens
 

Publications:

ID Title Authors Journal Details PubMed Id DOI
1082 RNA modification landscape of the human mitochondrial tRNA regulates protein synthesis. Uwe Richter Nat Commun [details] 30262910 10.1038/s41467-018-06471-z

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