European Journal of Pediatrics

, Volume 167, Issue 7, pp 771–776

Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene

  • Johan L. K. Van Hove
  • Cynthia Freehauf
  • Shelley Miyamoto
  • Georgirene D. Vladutiu
  • Jacklyn Pancrudo
  • Eduardo Bonilla
  • Mark A. Lovell
  • Gary W. Mierau
  • Janet A. Thomas
  • Sara Shanske
Original Paper

Abstract

A 6-week-old child presented with hypotonia, myopathy, and a rapidly worsening dilated cardiomyopathy with severe atrial and ventricular arrhythmias and pulmonary hypertension, which proved fatal at age 3 months. Biochemical analysis showed a combined deficiency of the enzymatic activities of complexes I and IV and molecular studies identified a T14709C mutation in the mitochondrial tRNA glutamic acid gene. A review of symptomatology in patients with this mutation shows that it mainly presents in childhood or young adults with mild myopathy and diabetes mellitus. Infants with a high, nearly homoplasmic mutant load can present with more severe symptoms including cardiomyopathy. Families with this mitochondrial DNA mutation should be aware that increased mutant load in a subsequent generation may result in severe and often fatal cardiac symptoms.

Keywords

Mitochondrial respiratory chain tRNA glutamic acid Cardiomyopathy Arrhythmias Heteroplasmy 

Abbreviations

mtDNA

mitochondrial DNA

tRNA

transfer RNA

COX

cytochrome c oxidase

ATP

adenosine triphosphate

ADP

adenosine diphosphate

RFLP

restriction fragment length polymorphism

PCR

polymerase chain reaction

PAGE

polyacrylamide gel electrophoresis

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Copyright information

© Springer-Verlag 2007

Authors and Affiliations

  • Johan L. K. Van Hove
    • 1
    • 5
  • Cynthia Freehauf
    • 1
  • Shelley Miyamoto
    • 1
  • Georgirene D. Vladutiu
    • 2
  • Jacklyn Pancrudo
    • 3
  • Eduardo Bonilla
    • 3
  • Mark A. Lovell
    • 4
  • Gary W. Mierau
    • 4
  • Janet A. Thomas
    • 1
  • Sara Shanske
    • 3
  1. 1.The Department of PediatricsThe University of Colorado at Denver Health Sciences Center and The Children’s HospitalDenverUSA
  2. 2.Department of PediatricsThe State University of New York at BuffaloBuffaloUSA
  3. 3.Department of NeurologyColumbia College of Physicians and SurgeonsNew YorkUSA
  4. 4.The Department of PathologyThe University of Colorado at Denver Health Sciences Center and The Children’s HospitalDenverUSA
  5. 5.Clinical Genetics and Metabolism, Department of PediatricsUniversity of Colorado Health Sciences Center at FitzsimmonsAuroraUSA

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