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Gene expression profile of mutant mouse bearing nuclear YARS2 G186V,mitochondrial COI V421A, and double muations

ABSTRACT: Leber hereditary optic neuropathy (LHON) is a paradigm for inherited retinal disorders. Nuclear modifier Yars2 was proposed to modify the phenotypic manifestation of LHON-associated mitochondrial DNA (mtDNA) mutations. However, the mechanism underlying retinal-specific effects of LHON-linked mitochondrial-nuclear interactions remains poorly understood and there has been no effective treatment or cure for this disorder. We use RNA-seq to investigate the retinal deficiencies caused by LHON-linked mtDNA (COI V421A) and nDNA (YARS2 G186V) mutations.

ORGANISM(S): Mus musculus

PROVIDER: GSE304707 | GEO | 2026/08/31

REPOSITORIES: GEO

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