Mitochondrial diseases: Yeast as a model for the study of suppressors

Biochim Biophys Acta Mol Cell Res. 2017 Apr;1864(4):666-673. doi: 10.1016/j.bbamcr.2017.01.008. Epub 2017 Jan 12.

Abstract

Mitochondrial (mt) tRNA gene mutations are an important cause of human morbidity and are associated with different syndromes. We have previously shown that the mitochondrial protein synthesis elongation factor EF-Tu and isolated sequences from the carboxy-terminal domain of yeast and human mt leucyl-tRNA synthetases (LeuRS), have a wide range of suppression capability among different yeast mt tRNA mutants having defective respiratory phenotype. Here we show that the rescuing capability can be restricted to a specific sequence of six amino acids from the carboxy-terminal domain of mt LeuRS. On the other hand by overexpressing a mutated version of mt EF-Tu in a yeast strain deleted for the endogenous nuclear gene we identified the specific region involved in suppression. Results support the possibility that a small peptide could correct defects associated with many mt tRNA mutations, suggesting a novel therapy for mitochondrial diseases treatment. The involvement of the mt EF-Tu in cellular heat stress response has also been suggested.

Keywords: Mitochondrial diseases; Mitochondrial translation; Suppressor genes; Yeast; tRNA mutations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Gene Expression Regulation, Fungal*
  • Genes, Suppressor
  • Genetic Complementation Test
  • Hot Temperature
  • Humans
  • Leucine-tRNA Ligase / genetics*
  • Leucine-tRNA Ligase / metabolism
  • Mitochondria / genetics*
  • Mitochondria / metabolism
  • Mitochondria / pathology
  • Mitochondrial Diseases / genetics
  • Mitochondrial Diseases / metabolism
  • Mitochondrial Diseases / pathology
  • Mitochondrial Proteins / genetics*
  • Mitochondrial Proteins / metabolism
  • Models, Biological
  • Mutation
  • Peptide Elongation Factor Tu / genetics*
  • Peptide Elongation Factor Tu / metabolism
  • RNA / genetics
  • RNA / metabolism
  • RNA, Mitochondrial
  • RNA, Transfer / genetics*
  • RNA, Transfer / metabolism
  • Saccharomyces cerevisiae / genetics*
  • Saccharomyces cerevisiae / metabolism
  • Stress, Physiological

Substances

  • Mitochondrial Proteins
  • RNA, Mitochondrial
  • RNA
  • RNA, Transfer
  • Peptide Elongation Factor Tu
  • Leucine-tRNA Ligase