SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease

Nat Commun. 2020 Nov 23;11(1):5927. doi: 10.1038/s41467-020-19743-4.

Abstract

Mitochondrial acyl-coenzyme A species are emerging as important sources of protein modification and damage. Succinyl-CoA ligase (SCL) deficiency causes a mitochondrial encephalomyopathy of unknown pathomechanism. Here, we show that succinyl-CoA accumulates in cells derived from patients with recessive mutations in the tricarboxylic acid cycle (TCA) gene succinyl-CoA ligase subunit-β (SUCLA2), causing global protein hyper-succinylation. Using mass spectrometry, we quantify nearly 1,000 protein succinylation sites on 366 proteins from patient-derived fibroblasts and myotubes. Interestingly, hyper-succinylated proteins are distributed across cellular compartments, and many are known targets of the (NAD+)-dependent desuccinylase SIRT5. To test the contribution of hyper-succinylation to disease progression, we develop a zebrafish model of the SCL deficiency and find that SIRT5 gain-of-function reduces global protein succinylation and improves survival. Thus, increased succinyl-CoA levels contribute to the pathology of SCL deficiency through post-translational modifications.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acyl Coenzyme A / metabolism*
  • Animals
  • Cells, Cultured
  • Female
  • Humans
  • Infant
  • Lysine / metabolism
  • Male
  • Mice
  • Mice, Knockout
  • Mitochondria / metabolism
  • Mitochondrial Diseases / genetics
  • Mitochondrial Diseases / metabolism
  • Mitochondrial Diseases / pathology*
  • Mutation
  • Proteomics
  • Sirtuins / deficiency
  • Sirtuins / genetics
  • Sirtuins / metabolism
  • Succinate-CoA Ligases / deficiency
  • Succinate-CoA Ligases / genetics*
  • Succinate-CoA Ligases / metabolism
  • Survival Analysis
  • Zebrafish

Substances

  • Acyl Coenzyme A
  • succinyl-coenzyme A
  • SIRT5 protein, human
  • Sirtuins
  • Succinate-CoA Ligases
  • SUCLA2 protein, human
  • Lysine