Journal
BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS
Volume 1820, Issue 5, Pages 601-607Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.bbagen.2011.08.005
Keywords
Animal modeling; Mitochondria; Mitochondrial DNA (mtDNA); Mitochondrial disease; Transmitochondrial animal; Xenomitochondrial mouse
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Funding
- NIH
- NSF
- MitoCure Foundation
- Alabama Agricultural Experiment Station
- Auburn University
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Background: Mutations in mitochondrial DNA (mtDNA) cause a variety of pathologic states in human patients. Development of animal models harboring mtDNA mutations is crucial to elucidating pathways of disease and as models for preclinical assessment of therapeutic interventions. Scope of review: This review covers the knowledge gained through animal models of mtDNA mutations and the strategies used to produce them. Animals derived from spontaneous mtDNA mutations, somatic cell nuclear transfer (SCNT), nuclear translocation of mitochondrial genes followed by mitochondrial protein targeting (allotopic expression), mutations in mitochondrial DNA polyrnerase gamma, direct microinjection of exogenous mitochondria, and cytoplasmic hybrid (cybrid) embryonic stem cells (ES cells) containing exogenous mitochondria (transmitochondrial cells) are considered. Major conclusions: A wide range of strategies have been developed and utilized in attempts to mimic human mtDNA mutation in animal models. Use of these animals in research studies has shed light on mechanisms of pathogenesis in mitochondrial disorders, yet methods for engineering specific mtDNA sequences are still in development. General significance: Research animals containing mtDNA mutations are important for studies of the mechanisms of mitochondrial disease and are useful for the development of clinical therapies. This article is part of a Special Issue entitled Biochemistry of Mitochondria. (C) 2011 Elsevier B.V. All rights reserved.
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