Original Articles

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

  1. Robert K. Naviaux MD, PhD1,2,3,*,
  2. Khue V. Nguyen PhD1,3

Article first published online: 30 MAR 2004

DOI: 10.1002/ana.20079

Issue

Annals of Neurology

Annals of Neurology

Volume 55, Issue 5, pages 706–712, May 2004

Additional Information

How to Cite

Naviaux, R. K. and Nguyen, K. V. (2004), POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann Neurol., 55: 706–712. doi: 10.1002/ana.20079

Author Information

  1. 1

    Departments of Medicine, University of California, San Diego School of Medicine, San Diego, CA

  2. 2

    Departments of Pediatrics, University of California, San Diego School of Medicine, San Diego, CA

  3. 3

    The Mitochondrial and Metabolic Disease Center, University of California, San Diego School of Medicine, San Diego, CA

*Departments of Medicine and Pediatrics and the Mitochondrial and Metabolic Disease Center, University of California, San Diego School of Medicine, 214 Dickinson Street, Building CTF, Room C-103, San Diego, CA 92103-8467

Publication History

  1. Issue published online: 21 APR 2004
  2. Article first published online: 30 MAR 2004
  3. Manuscript Accepted: 4 FEB 2004
  4. Manuscript Revised: 9 JAN 2004
  5. Manuscript Received: 24 SEP 2003

Funded by

  • Edward Mallinckrodt
  • Jr. Foundation
  • The UCSD Foundation Christini Fund
  • The David Campbell Foundation
  • The San Diego Medical Education and Research Foundation
  • The Tyler Riff Ferguson Medical Research Foundation
  • The People of Cumberland Maryland and the Tri-State Area
  • The Scott Pawlowski Mitochondrial Research Fund
  • National Institutes of Health grant to the UCSD General Clinical Research Center. Grant Number: MOI RR00827

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Abstract

Alpers' syndrome is a fatal neurogenetic disorder first described more than 70 years ago. It is an autosomal recessive, developmental mitochondrial DNA depletion disorder characterized by deficiency in mitochondrial DNA polymerase γ (POLG) catalytic activity, refractory seizures, neurodegeneration, and liver disease. In two unrelated pedigrees of Alpers' syndrome, each affected child was found to carry a homozygous mutation in exon 17 of the POLG locus that led to a Glu873Stop mutation just upstream of the polymerase domain of the protein. In addition, each affected child was heterozygous for the G1681A mutation in exon 7 that led to an Ala467Thr substitution in POLG, within the linker region of the protein. Ann Neurol 2004

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