RIKEN Center for Integrative Medical Sciences Researchers Update Current Data on Genomic Medicine (Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy).

Předmět:	MEDICAL sciences REPORTERS & reporting GENOMICS MEDICAL research personnel PROMOTERS (Genetics) SPINOCEREBELLAR ataxia
Zdroj:	Genomics & Genetics Weekly; 11/15/2024, p1338-1338, 1p
Abstrakt:	Researchers at the RIKEN Center for Integrative Medical Sciences have identified a patient with NAXE-related mitochondrial encephalopathy and a biallelic GGGCC repeat expansion, leading to transcriptional suppression and CpG hypermethylation. This study suggests that uniparental disomy (UPD) could contribute to homozygosity for rare repeat-expanded alleles, highlighting the role of repeat expansions in mitochondrial diseases. The findings were published in npj Genomic Medicine and provide valuable insights into the genetic mechanisms underlying these disorders. [Extracted from the article]
Databáze:	Complementary Index
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