Leigh Syndrome in a Pedigree Harboring the m.1555A>G Mutation in the Mitochondrial 12S rRNA

Genes (Basel). 2020 Aug 27;11(9):1007. doi: 10.3390/genes11091007.

Abstract

Background: Leigh syndrome (LS) is a serious genetic disease that can be caused by mutations in dozens of different genes.

Methods: Clinical study of a deafness pedigree in which some members developed LS. Cellular, biochemical and molecular genetic analyses of patients' tissues and cybrid cell lines were performed.

Results: mitochondrial DNA (mtDNA) m.1555A>G/MT-RNR1 and m.9541T>C/MT-CO3 mutations were found. The first one is a well-known pathologic mutation. However, the second one does not appear to contribute to the high hearing loss penetrance and LS phenotype observed in this family.

Conclusion: The m.1555A>G pathological mutation, accompanied with an unknown nuclear DNA (nDNA) factor, could be the cause of the phenotypic manifestations in this pedigree.

Keywords: Leigh syndrome; hearing loss; mitochondrial DNA; pathologic mutation; penetrance; ribosomal RNA.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Leigh Disease / genetics*
  • Leigh Disease / pathology
  • Male
  • Mutation*
  • Pedigree
  • Phenotype
  • RNA, Mitochondrial / genetics*
  • RNA, Ribosomal
  • Young Adult

Substances

  • RNA, Mitochondrial
  • RNA, Ribosomal
  • RNA, ribosomal, 12S