Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch

Mitochondrion. 2010 Jun;10(4):362-8. doi: 10.1016/j.mito.2010.03.003. Epub 2010 Mar 19.


The aim of this study was to identify the causative genetic lesion in two apparently unrelated newborns having lethal lactic acidosis, multi-organ failure and congenital malformations including interrupted aortic arch, who exhibited mild methylmalonic aciduria, combined mitochondrial respiratory chain deficiency, and marked muscle mitochondrial DNA depletion. A novel mutation in the SUCLG1 gene was identified. Phenotype severity in Succinate-CoA ligase dysfunction appears to be more correlated to the muscle mtDNA content than to the tissue distribution of the heterodimer subunits. Prominent impairment of mitochondrial respiratory chain may result in deep ravages in developmental tissues leading to multiple organ failure and malformations.

Publication types

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

MeSH terms

  • Acidosis / genetics*
  • Aorta, Thoracic / abnormalities*
  • DNA, Mitochondrial / genetics
  • Fatal Outcome
  • Female
  • Genetic Diseases, Inborn / diagnosis*
  • Genetic Diseases, Inborn / pathology
  • Humans
  • Infant, Newborn
  • Male
  • Methylmalonic Acid / urine
  • Mitochondrial Proteins / deficiency*
  • Multiple Organ Failure / congenital*
  • Multiple Organ Failure / genetics
  • Muscles / pathology
  • Mutation, Missense*
  • Succinate-CoA Ligases / deficiency*


  • DNA, Mitochondrial
  • Mitochondrial Proteins
  • Methylmalonic Acid
  • Succinate-CoA Ligases