Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation

Ann Neurol. 2004 Nov;56(5):734-8. doi: 10.1002/ana.20282.


The mitochondrial respiratory chain comprises 85 subunits, 13 of which are mitochondrial encoded. The synthesis of these 13 proteins requires many nuclear-encoded proteins that participate in mitochondrial DNA replication, transcript production, and a distinctive mitochondrial translation apparatus. We report a patient with agenesis of corpus callosum, dysmorphism, and fatal neonatal lactic acidosis with markedly decreased complex I and IV activity in muscle and liver and a generalized mitochondrial translation defect identified in pulse-label experiments. The defect was associated with marked reduction of the 12S rRNA transcript level likely attributed to a nonsense mutation in the MRPS16 gene. A new group of mitochondrial respiratory chain disorders is proposed, resulting from mutations in nuclear encoded components of the mitochondrial translation apparatus.

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Alkyl and Aryl Transferases / genetics
  • Alkyl and Aryl Transferases / metabolism
  • Blotting, Northern / methods
  • DNA Mutational Analysis / methods
  • DNA, Mitochondrial / genetics*
  • DNA, Mitochondrial / metabolism
  • Electron Transport Complex IV
  • Female
  • Fibroblasts / metabolism
  • Humans
  • Infant, Newborn
  • Membrane Proteins / genetics
  • Membrane Proteins / metabolism
  • Mitochondrial Diseases / genetics*
  • Mitochondrial Diseases / metabolism
  • Mutation*
  • RNA, Ribosomal / genetics
  • RNA, Ribosomal / metabolism
  • Ribosomal Proteins / genetics*


  • DNA, Mitochondrial
  • Membrane Proteins
  • RNA, Ribosomal
  • RNA, ribosomal, 12S
  • Ribosomal Proteins
  • COX10 protein, human
  • Electron Transport Complex IV
  • Alkyl and Aryl Transferases