Abstract: This chapter focuses on the detection of mutations in mitochondrial DNA (mtDNA). There are several distinctive features of mtDNA that are relevant to the understanding of mtDNA-related diseases. An ever-increasing number of mitochondrial diseases with distinct clinical phenotypes have been associated with mutations in mtDNA, almost all of which resulted in neurological or neuromuscular disorders. These errors fall into three major classes—large-scale rearrangements of mtDNA, depletion of mtDNA, or point mutations in mtDNA. Large-scale single deletions of mtDNA are associated with three major clinical conditions—Kearns-Sayre syndrome, progressive external ophthalmoplegia, and Pearson syndrome. The chapter describes both the southern blot technique and a quantitative real-time polymerase chain reaction method. MtDNA depletion syndromes comprise a clinically heterogeneous group of disorders characterized by severe reduction in mtDNA copy number. Primary mtDNA depletion is inherited as an autosomal recessive trait and is associated with mutations in nuclear-encoded genes responsible for mtDNA synthesis or maintenance of deoxynucleotide pools. The chapter also describes point mutations in mtDNA. More than 150 pathogenic mtDNA point mutations have been documented and new ones are still being described.
Publication Year: 2007
Publication Date: 2007-01-01
Language: en
Type: review
Indexed In: ['crossref', 'pubmed']
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Cited By Count: 16
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