Comparison between D-loop methylation and mtDNA copy number in patients with Aicardi-Goutières Syndrome.

Francesca Dragoni,Jessica Garau,Simona Orcesi,Costanza Varesio,Matteo Bordoni,Eveljn Scarian,Rosalinda Di Gerlando,Elisa Fazzi,Roberta Battini,Altea Gjurgjaj, Bartolo Rizzo,Orietta Pansarasa,Stella Gagliardi

Frontiers in endocrinology（2023）

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摘要

These findings, which contradict the evidence for an inverse relationship between D-loop methylation levels and mtDNA copy number, show that AGS patients have higher D-loop methylation levels than healthy control subjects. Additional research is needed to identify the function of these features in the etiology and course of AGS.

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关键词

Aicardi-Goutières Syndrome (AGS),D-loop (control region),epigenetics (DNA methylation),methylation,mitoepigenetics,mtDNA

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