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Internationally recognized authorities describe in great detail the methods they have perfected to analyze mtDNA and the proteins involved in its maintenance. The analytical techniques cover the purification of mtDNA from a variety of sources and the analysis of DNA for both deletions, point mutations, and damage, for replication intermediates, and for following the fate of mtDNA outside of the mitochondria. Additional analytical methods are presented for analyzing the proteins and enzymes that maintain mtDNA. Comprehensive and timely, Mitochondrial DNA: Methods and Protocols offers both basic and clinical researchers proven cutting-edge methods for analyzing mtDNA and illuminating the role it plays in the aging process, apoptosis, and possibly some cancers.
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Methods in Molecular Biology TM VOLUME 197 Mitochondrial DNA Methods and Protocols Edited by William C. Copeland HUMANA PRESS Animal Models for Mitochondrial Disease I METHODS FOR THE ANALYSIS OF MTDNA 1 Animal Models for Mitochondrial Disease 3 1 Animal Models for Mitochondrial Disease Douglas C. Wallace 1. Introduction Although a variety of degenerative diseases are now known to be caused by two mutations in mitochondrial genes, the pathophysiology of these diseases remains poorly understood. As a consequence, relatively little progress has been made in developing new therapies for mitochondrial diseases. What has been needed are animal models for these diseases that are amenable to detailed biochemical, physiological, and molecular analysis, and on which promising therapies can be tested. In the past 5 yr, this deficiency has begun to be addressed by the construction of a number of mouse models of mitochondrial disease. These have already revolutionized our understanding of the pathophysiology of mitochon