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Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria

Journal article
Authors S. Matic
M. Jiang
Thomas J. Nicholls
Jay Uhler
C. Dirksen-Schwanenland
P. L. Polosa
M. L. Simard
X. P. Li
I. Atanassov
O. Rackham
A. Filipovska
J. B. Stewart
Maria Falkenberg
N. G. Larsson
D. Milenkovic
Published in Nature Communications
Volume 9
ISSN 2041-1723
Publication year 2018
Published at Institute of Biomedicine, Department of Medical Biochemistry and Cell Biology
Language en
Keywords dna-polymerase gamma, progressive external ophthalmoplegia, 7s dna, d-loop, replication machinery, maintenance defects, helicase twinkle, mutations, transcription, protein, Science & Technology - Other Topics
Subject categories Cell and Molecular Biology


Replication of mammalian mitochondrial DNA (mtDNA) is an essential process that requires high fidelity and control at multiple levels to ensure proper mitochondrial function. Mutations in the mitochondrial genome maintenance exonuclease 1 (MGME1) gene were recently reported in mitochondrial disease patients. Here, to study disease pathophysiology, we generated Mgme1 knockout mice and report that homozygous knockouts develop depletion and multiple deletions of mtDNA. The mtDNA replication stalling phenotypes vary dramatically in different tissues of Mgme1 knockout mice. Mice with MGME1 deficiency accumulate a long linear subgenomic mtDNA species, similar to the one found in mtDNA mutator mice, but do not develop progeria. This finding resolves a long-standing debate by showing that point mutations of mtDNA are the main cause of progeria in mtDNA mutator mice. We also propose a role for MGME1 in the regulation of replication and transcription termination at the end of the control region of mtDNA.

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