Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitochondria

Hum Mol Genet. 2003 Sep 15;12(18):2341-8. doi: 10.1093/hmg/ddg238. Epub 2003 Jul 22.

Abstract

Human mtDNA is transcribed from both strands, producing polycistronic RNA species that are immediately processed. Discrete RNA units are matured by the addition of nucleotides at their 3' termini: -CCA trinucleotide is added to mt-tRNAs, whilst mt-rRNAs and mt-mRNAs are oligo- or polyadenylated, respectively. The cis-acting elements, enzymes and indeed the mechanisms involved in these processes are still largely uncharacterized. Further, the function of polyadenylation in promoting stability, translation or decay of human mt-mRNA is unclear. A microdeletion has been identified in a patient presenting with mtDNA disease. Loss of these two residues removes the termination codon for MTATP6 and sets MTCO3 immediately in frame. Accurate processing at this site still occurs, but there is a markedly decreased steady-state level of RNA14, the ATPase 8- and 6-encoding bi-cistronic mRNA unit, establishing that an mtDNA mutation can cause dysregulation of mRNA stability. Analysis of the polyadenylation profile of the processed RNA14 at steady state revealed substantial abnormalities. The majority of mutated RNA14 terminated with short poly (A) extensions and a second, partially truncated population, was also present. Initial maturation of mutated RNA14 was unaffected, but deadenylation occurred rapidly. Inhibition of mitochondrial protein synthesis showed that the deadenylation was dependent on translation. Finally, deadenylation was shown to enhance mRNA decay, explaining the decrease in steady-state RNA14. An hypothesis is presented to describe how an mtDNA mutation that results in the loss of a termination codon causes enhanced mt-mRNA decay by translation-dependent deadenylation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Triphosphatases / genetics
  • Adenosine Triphosphatases / metabolism
  • Cells, Cultured
  • Codon, Terminator
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics*
  • Electron Transport Complex IV / genetics
  • Fibroblasts / chemistry
  • Humans
  • Kinetics
  • Mitochondria / genetics*
  • Mitochondria / metabolism
  • Mitochondrial Diseases / etiology
  • Mitochondrial Diseases / genetics
  • Mitochondrial Proton-Translocating ATPases
  • Models, Biological
  • Polyadenylation / genetics
  • Protein Biosynthesis*
  • RNA Stability
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • RNA, Mitochondrial
  • Recombinant Fusion Proteins / metabolism
  • Sequence Deletion / genetics*

Substances

  • Codon, Terminator
  • DNA, Mitochondrial
  • MT-ATP6 protein, human
  • RNA, Messenger
  • RNA, Mitochondrial
  • Recombinant Fusion Proteins
  • mitochondrial messenger RNA
  • Electron Transport Complex IV
  • Adenosine Triphosphatases
  • Mitochondrial Proton-Translocating ATPases