Pathogenic mitochondrial DNA (mtDNA) mutations are usually present in heteroplasmic forms that vary in concentration among different tissues. Manifestation of clinical phenotypes depends on the degree of mtDNA mutation heteroplasmy (mutation load) in affected tissues. It is therefore important to quantify the degree of mutation heteroplasmy in various tissues. In this chapter, we outline the design of allele refractory mutation system (ARMS)-based quantitative PCR (qPCR) analysis of common mtDNA point mutations, a cost-effective and sensitive single-step method to simultaneously detect and quantify heteroplasmic mtDNA point mutations.
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Mitochondrial diseases, caused by mutations in either nuclear or mitochondrial DNA (mtDNA), currently have limited treatment options. For mtDNA mutations, reducing mutant-to-wild-type mtDNA ratio (heteroplasmy shift) is a promising therapeutic option, though current approaches face significant challenges. Previous research has shown that severe mitochondrial dysfunction triggers an adaptive nuclear epigenetic response, characterized by changes in DNA methylation, which does not occur or is less important when mitochondrial impairment is subtle.
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