Extensive and rapid comprehensive screening for mitochondrial DNA point mutations in patients with hereditary hearing loss and quantitative analysis of mtDNA mutation in the cells of the inner ear

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We analyzed 373 patients with suspected hereditary HL using an extensive and rapid suspension-array screening system for 61 major mtDNA mutations. The m.1555A>G and m.3243A>G mutations were detected in 11 (2.9%) and 9 (2.7%) patients, respectively. In addition, five mutations, that is, m.8348A>G, m.11778G>A, 15498G>A, m.7444G>A, and m.7472C>ins C mutations were detected in one patient for each. This screening system is useful for the genetic diagnosis. We extracted mtDNA using laser capture microdissection method from cells of interest from inner ear taken from patients with m.3243A>G mutations and quantitatively analyzed mtDNA mutation.