The diabetes-associated 3243 mutation in the mitochondrial tRNA(Leu(UUR)) gene causes severe mitochondrial dysfunction without a strong decrease in protein synthesis rate.

doi:10.1074/jbc.274.42.29744

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Article

The diabetes-associated 3243 mutation in the mitochondrial tRNA(Leu(UUR)) gene causes severe mitochondrial dysfunction without a strong decrease in protein synthesis rate.

The Journal of biological chemistry - 15 Oct 1999

Janssen G M, Maassen J A, van Den Ouweland J M

Abstract excerpt

Cells harboring patient-derived mitochondria with an A-to-G transition at nucleotide position 3243 of their mitochondrial DNA display severe loss of respiration when compared with cells containing the wild-type adenine but otherwise identical mitochondrial DNA sequence. The amount and degree of leucylation of tRNA(Leu(UUR)) were both found to be highly reduced in mutant cells. Despite the low level of...

Topics

Cells, Cultured
DNA, Mitochondrial
Diabetes Mellitus
Humans
Mitochondria
Mutation
Oxygen
Protein Biosynthesis
RNA, Transfer, Leu

Source

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Identifiers

PMID: 10514449
DOI: 10.1074/jbc.274.42.29744

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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