Quantitative Analysis of Mitochondrial DNA Heteroplasmy in Urinary Podocytes of Myoclonus Epilepsy With Ragged-Red Fibers Syndrome

Miwa Goto,Emi Sawanobori,Takeshi Inukai,Shuji Hirata,Tadashi Mabuchi

Kidney International Reports（2023）

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摘要

Mitochondria are the critical organelles to generate cellular energy through oxidative phosphorylation. Their functions are regulated by mitochondrial DNA (mtDNA) as well as nuclear DNA. Gene mutations can lead to mitochondrial dysfunction in cells or tissues and result in mitochondrial diseases.1

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关键词

fragment analysis,heteroplasmy,mitochondrial diseases,proteinuria,standard curve,urinary podocytes

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