Mitochondrial disorders
Author:
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,General Neuroscience
Link
http://link.springer.com/content/pdf/10.1007/s11910-003-0026-9.pdf
Reference65 articles.
1. Shanske S, Tang Y, Hirano M, et al.: Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome. Am J Hum Genet 2002, 71:679–683. This work demonstrates that although the vast majority of single, large-scale deletions in mtDNA are sporadic, in rare cases single deletions can be transmitted through the germline.
2. Schwartz M and Vissing J: Paternal inheritance of mtDNA. N Engl J Med 2002, 347:576–580.
3. Battersby BJ, Loredo-Osti JC, Shoubridge EA: Nuclear genetic control of mitochondrial DNA segregation. Nat Genet 2003, 33:183–186. This is the first genetic evidence for nuclear control of mammalian mtDNA segregation. This finding can have important consequences on the therapeutic attempts to control the mutation load of pathogenic heteroplasmic mutations leading to OXPHOS failure in humans.
4. Yang MY, Bowmaker M, Reyes A, et al.: Biased incorporation of ribonucleotides on the mitochondrial L-strand accounts for apparent strand-asymmetric DNA replication. Cell 2002, 111:495–505. This article concludes that mammalian mtDNA replication may well proceed mainly, or exclusively, by a strand-coupled mechanism.
5. Falkenberg M, Gaspari M, Rantanen A, et al.: Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA. Nat Genet 2002, 31:289–294. The presence of two proteins that interact with mammalian POLRMT may allow flexible regulation of mtDNA gene expression in response to the complex physiologic demands of mammalian metabolism.
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