Mitochondrial DNA copy number differentiates the Leber’s hereditary optic neuropathy affected individuals from the unaffected mutation carriers: Figure 1 (original) (raw)
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This paper investigates the role of mitochondrial DNA (mtDNA) copy number as a distinguishing factor between affected individuals and unaffected mutation carriers in Leber's hereditary optic neuropathy (LHON). It highlights findings from Italian and Spanish cohorts that demonstrate higher mtDNA content in carriers compared to affected subjects and controls, reaffirming previous studies. The authors suggest that mtDNA copy number may serve as a significant predictive biomarker for disease progression and propose further exploration into mitochondrial biogenesis as a potential therapeutic avenue.
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