Measurement of mitochondrial DNA copy number
V Venegas, MC Halberg - Mitochondrial disorders: biochemical and …, 2012 - Springer
V Venegas, MC Halberg
Mitochondrial disorders: biochemical and molecular analysis, 2012•SpringerMitochondrial disorders are complex and heterogeneous diseases that may be caused by
molecular defects in either the nuclear or mitochondrial genome. The biosynthesis and
maintenance of the integrity of the mitochondrial genome is solely dependent on a number
of nuclear proteins. Defects in these nuclear genes can lead to mitochondrial DNA (mtDNA)
depletion (Spinazzola et al. Biosci Rep 27: 39–51, 2007). The mitochondrial DNA (mtDNA)
depletion syndromes (MDDSs) are autosomal recessive disorders characterized by a …
molecular defects in either the nuclear or mitochondrial genome. The biosynthesis and
maintenance of the integrity of the mitochondrial genome is solely dependent on a number
of nuclear proteins. Defects in these nuclear genes can lead to mitochondrial DNA (mtDNA)
depletion (Spinazzola et al. Biosci Rep 27: 39–51, 2007). The mitochondrial DNA (mtDNA)
depletion syndromes (MDDSs) are autosomal recessive disorders characterized by a …
Abstract
Mitochondrial disorders are complex and heterogeneous diseases that may be caused by molecular defects in either the nuclear or mitochondrial genome. The biosynthesis and maintenance of the integrity of the mitochondrial genome is solely dependent on a number of nuclear proteins. Defects in these nuclear genes can lead to mitochondrial DNA (mtDNA) depletion (Spinazzola et al. Biosci Rep 27:39–51, 2007). The mitochondrial DNA (mtDNA) depletion syndromes (MDDSs) are autosomal recessive disorders characterized by a significant reduction in mtDNA content. These genes include POLG, DGUOK, TK2, TYMP, MPV17, SUCLA2, SUCLG1, RRM2B, and C10orf2, all nine genes have mutations reported to cause various forms of MDDSs. In this chapter, we outline the real-time quantitative polymerase chain reaction (qPCR) analysis of mtDNA content in muscle or liver tissues.
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