Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper?

J Inherit Metab Dis. 2004;27(1):67-79. doi: 10.1023/B:BOLI.0000016614.47380.2f.

Abstract

Mutations in Sco2, a protein involved in copper trafficking to the terminal enzyme of the respiratory chain, cytochrome c oxidase, results in infantile hypertrophic cardioencephalomyopathy. We have recently shown that copper-histidine (Cu-his) supplementation of Sco2-deficient myoblasts rescues COX activity in vitro. Here, we report a patient with SCO 2 mutations and with resolution of severe hypertrophic cardiomyopathy. Weighing up the evidence, the most likely explanation for the improved cardiac function in this patient was the subcutaneous application of Cu-his.

Publication types

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

MeSH terms

  • Cardiomyopathy, Hypertrophic / blood
  • Cardiomyopathy, Hypertrophic / diagnosis
  • Cardiomyopathy, Hypertrophic / drug therapy*
  • Cardiomyopathy, Hypertrophic / metabolism*
  • Carrier Proteins
  • Echocardiography
  • Electrocardiography
  • Fatal Outcome
  • Female
  • Follow-Up Studies
  • Histidine / administration & dosage
  • Histidine / analogs & derivatives*
  • Histidine / therapeutic use*
  • Humans
  • Injections, Subcutaneous
  • Lactic Acid / blood
  • Mitochondria / metabolism*
  • Mitochondrial Proteins
  • Molecular Chaperones
  • Mutation*
  • Organometallic Compounds / administration & dosage
  • Organometallic Compounds / therapeutic use*
  • Proteins / genetics*
  • Remission Induction

Substances

  • Carrier Proteins
  • Mitochondrial Proteins
  • Molecular Chaperones
  • Organometallic Compounds
  • Proteins
  • SCO2 protein, human
  • Lactic Acid
  • Histidine
  • copper histidine