Research Article

Cosegregation of the mitochondrial DNA A1555G and G4309A mutations results in deafness and mitochondrial myopathy

  1. Y. Campos MSc1,
  2. A. García MSc1,
  3. A. López MD2,
  4. S. Jiménez BSc1,
  5. J.C. Rubio MSc1,
  6. P. Del Hoyo PharmB1,
  7. F. Bustos MSc1,
  8. M.A. Martín PharmB1,
  9. A. Cabello MD3,
  10. J.R. Ricoy MD3,
  11. J. Arenas PhD1,*

Article first published online: 28 JAN 2002

DOI: 10.1002/mus.10012

Issue

Muscle & Nerve

Muscle & Nerve

Volume 25, Issue 2, pages 185–188, February 2002

Additional Information

How to Cite

Campos, Y., García, A., López, A., Jiménez, S., Rubio, J., Del Hoyo, P., Bustos, F., Martín, M., Cabello, A., Ricoy, J. and Arenas, J. (2002), Cosegregation of the mitochondrial DNA A1555G and G4309A mutations results in deafness and mitochondrial myopathy. Muscle & Nerve, 25: 185–188. doi: 10.1002/mus.10012

Author Information

  1. 1

    Centro de Investigación, Hospital 12 de Octubre, Avenida de Córdoba, 28041 Madrid, Spain

  2. 2

    Departamento de Neuropatología, Hospital 12 de Octubre, Madrid, Spain

  3. 3

    Servicio de Neurología, Hospital General de Teruel, Teruel, Spain

*Centro de Investigación, Hospital 12 de Octubre, Avenida de Córdoba, 28041 Madrid, Spain

Publication History

  1. Issue published online: 28 JAN 2002
  2. Article first published online: 28 JAN 2002
  3. Manuscript Accepted: 16 AUG 2001

Funded by

  • the Fondo de Investigación Sanitaria. Grant Numbers: (FIS) 00/370, 01/1426
  • Ministerio de Sanidad, Spain
  • Dirección General de Investigación 08.5/0013/2000
  • FIS, Y
  • Instituto de Salud Carlos III (ISC III). Grant Number: 98/3166
  • Spanish Association for the Study of Amyotrophic Lateral Sclerosis

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Keywords:

  • deafness;
  • mitochondrial disorders;
  • mitochondrial DNA;
  • mitochondrial myopathy;
  • progressive external ophthalmoplegia

Abstract

We report a patient with progressive external ophthalmoplegia (PEO), exercise intolerance, and deafness after aminoglycoside exposure, harboring two pathogenic mutations in her mtDNA: an A1555G in the 12S rRNA gene and a G4309A in the tRNAIle gene. Muscle histochemistry showed abundant ragged-red fibers, and biochemistry revealed normal respiratory chain function. The A1555G mutation was homoplasmic in blood from the proband and from all maternal relatives. The G4309A mutation was abundant in the proband′s muscle, less abundant in her blood, still less abundant in the mother′s blood, and absent in blood from other maternal relatives. Family members were asymptomatic. Our data suggest that the former mutation resulted in aminoglycoside-induced deafness and the latter caused PEO plus exercise intolerance. © 2002 John Wiley & Sons, Inc. Muscle Nerve 25: 185–188, 2002 DOI 10.1002/mus.10012

View Full Article (HTML) Get PDF (230K)