HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text Full Text (PDF) Data Supplement All Versions of this Article: 01.wnl.0000182814.55361.70v1 65/9/1493    most recent Correspondence: Submit a response Alert me when this article is cited Alert me when Correspondence are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Nguyen, K. V. Articles by Naviaux, R. K. Search for Related Content PubMed PubMed Citation Articles by Nguyen, K. V. Articles by Naviaux, R. K. Related Collections All Pediatric Developmental disorders All Genetics Mitochondrial disorders

POLG mutations in Alpers syndrome

From the Departments of Medicine (Drs. Nguyen and Naviaux) and Pediatrics (Dr. Naviaux), University of California, San Diego, and Mitochondrial and Metabolic Disease Center, San Diego, CA; John F. Kennedy Institute (Dr. Østergaard), Glostrup, Denmark; Departments of Genetics and Pediatrics (Dr. Holst Ravn), Rigshospitalet, Copenhagen, Denmark; Department of Paediatrics (Dr. Balslev), Skejby Hospital, Aarhus University Hospital, Denmark; Department of Radiology (Dr. Rubæk Danielsen), University of Copenhagen, Rigshospitalet, Denmark; Pediatric Critical Care Medicine (Dr. Vardag), West Boca Medical Center, Boca Raton, FL; Children's Hospital NHS Trust (Dr. McKiernan), Liver Unit, Birmingham, UK; and Clinical Chemistry (Dr. Gray), Children's Hospital, Birmingham, UK.

Address correspondence and reprint requests to Dr Naviaux, Mitochondrial and Metabolic Disease Center, 214 Dickinson St., MC8467, San Diego, CA 92103-2071; e-mail: naviaux{at}ucsd.edu.

Described are six patients with Alpers syndrome from four unrelated families. Affected individuals harbored the following combinations of POLG mutations: 1) A467T/W1020X, 2) W748S-E1143G/G848S, 3) A467T/A467T, and 4) A467T/G848S. Homozygosity for the A467T allele in one patient was associated with a later age at onset. Mitochondrial respiratory chain studies in skeletal muscle were normal in each case. Nine combinations of mutant POLG alleles that cause Alpers syndrome are summarized.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the November 8 issue to find the title link for this article.

This article was previously published in electronic format as an Expedited E-Pub on September 21, 2005, at www.neurology.org.

Supported by grants from the UCSD Foundation Christini Fund, the William Wright Family Foundation, and the UCSD Department of Medicine to R.K.N.

Disclosure: The authors report no conflicts of interest.

Received April 13, 2005. Accepted in final form July 22, 2005.

This article has been cited by other articles:

				A. Gotz, P. Isohanni, H. Pihko, A. Paetau, R. Herva, O. Saarenpaa-Heikkila, L. Valanne, S. Marjavaara, and A. Suomalainen Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome Brain, November 1, 2008; 131(11): 2841 - 2850. [Abstract] [Full Text] [PDF]

				B. A. Engelsen, C. Tzoulis, B. Karlsen, A. Lillebo, L. M. Laegreid, J. Aasly, M. Zeviani, and L. A. Bindoff POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection Brain, March 1, 2008; 131(3): 818 - 828. [Abstract] [Full Text] [PDF]

				M. Zeviani OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape Brain, February 1, 2008; 131(2): 314 - 317. [Full Text] [PDF]

				E. Wiltshire, G. Davidzon, S. DiMauro, H. O. Akman, L. Sadleir, L. Haas, J. Zuccollo, A. McEwen, and D. R. Thorburn Juvenile Alpers Disease Arch Neurol, January 1, 2008; 65(1): 121 - 124. [Abstract] [Full Text] [PDF]

				A. Amaral, J. Ramalho-Santos, and J. C. St John The expression of polymerase gamma and mitochondrial transcription factor A and the regulation of mitochondrial DNA content in mature human sperm Hum. Reprod., June 1, 2007; 22(6): 1585 - 1596. [Abstract] [Full Text] [PDF]

				S. S.L. Chan, M. J. Longley, and W. C. Copeland Modulation of the W748S mutation in DNA polymerase {gamma} by the E1143G polymorphismin mitochondrial disorders Hum. Mol. Genet., December 1, 2006; 15(23): 3473 - 3483. [Abstract] [Full Text] [PDF]

				G. Hudson and P. F. Chinnery Mitochondrial DNA polymerase-{gamma} and human disease Hum. Mol. Genet., October 15, 2006; 15(suppl_2): R244 - R252. [Abstract] [Full Text] [PDF]

				R. Horvath, G. Hudson, G. Ferrari, N. Futterer, S. Ahola, E. Lamantea, H. Prokisch, H. Lochmuller, R. McFarland, V. Ramesh, et al. Phenotypic spectrum associated with mutations of the mitochondrial polymerase {gamma} gene Brain, July 1, 2006; 129(7): 1674 - 1684. [Abstract] [Full Text] [PDF]

				C. Tzoulis, B. A. Engelsen, W. Telstad, J. Aasly, M. Zeviani, S. Winterthun, G. Ferrari, J. H. Aarseth, and L. A. Bindoff The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases Brain, July 1, 2006; 129(7): 1685 - 1692. [Abstract] [Full Text] [PDF]