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Mutation of the linker region of the polymerase γ-1 (POLG1) gene associated with progressive external ophthalmoplegia and parkinsonism

Lookup NU author(s): Professor Gavin Hudson, Dr Andrew Schaefer, Professor Robert Taylor, Professor David Burn, Emeritus Professor Doug Turnbull, Professor Patrick Chinnery


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Objective: To define the molecular basis of the autosomal dominant progressive external ophthalmoplegia and parkinsonism in a large family with a dominantly transmitted multiple mitochondrial DNA deletion disorder. Design: Microsatellite analysis and screening of the progressive external ophthalmoplegia 1 (PEO1), adenine nucleotide translocator 1 (ANT1), and polymerase γ-1 (POLG1) genes. Results: We identified 3 novel heterozygous POLG1 substitutions in the same family. Autosomal dominant progressive external ophthalmoplegia segregated with 1532G>A in exon 8 and an intronic variant c.2070+158G>A in cis. The one patient with parkinsonism had an additional heterozygous substitution in exon 7 in trans (1389G>T). Both coding region mutations were predicted to alter conserved amino acids in the linker region of polymerase γ. None of the substitutions were found in 192 ethnically matched control chromosomes, 108 patients with progressive external ophthalmoplegia, nor 140 cases of sporadic idiopathic Parkinson disease. Conclusion: Both autosomal dominant progressive external ophthalmoplegia and parkinsonism can because caused by mutations that directly affect the polymerase domain of polymerase γ. ©2007 American Medical Association. All rights reserved.

Publication metadata

Author(s): Hudson G, Schaefer AM, Taylor RW, Tiangyou W, Gibson A, Venables G, Griffiths P, Burn DJ, Turnbull DM, Chinnery PF

Publication type: Article

Publication status: Published

Journal: Archives of Neurology

Year: 2007

Volume: 64

Issue: 4

Pages: 553-557

ISSN (print): 0003-9942

ISSN (electronic): 1538-3687

Publisher: American Medical Association


DOI: 10.1001/archneur.64.4.553

PubMed id: 17420318


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