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

ABSTRACT:

Introduction

Aicardi-Goutières Syndrome (AGS) is a rare encephalopathy with early onset that can be transmitted in both dominant and recessive forms. Its phenotypic covers a wide range of neurological and extraneurological symptoms. Nine genes that are all involved in nucleic acids (NAs) metabolism or signaling have so far been linked to the AGS phenotype. Recently, a link between autoimmune or neurodegenerative conditions and mitochondrial dysfunctions has been found. As part of the intricate system of epigenetic control, the mtDNA goes through various alterations. The displacement (D-loop) region represents one of the most methylated sites in the mtDNA. The term "mitoepigenetics" has been introduced as a result of increasing data suggesting that epigenetic processes may play a cr

SUBMITTER: Dragoni F 

PROVIDER: S-EPMC10043473 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature