Gene expression profile at single cell level of retinal cells of mitochondrial ND6 13997 G>A mutant mouse

LHON is a paraLeber hereditary optic neuropathy (LHON) is a paradigm for mitochondrial retinopathy due to mitochondrial DNA (mtDNA) mutations. However, the mechanism underlying retinal cell-specific effects of LHON-linked mtDNA mutations remains poorly understood and there has been no effective treatment or cure for this disorder. We use scRNA-seq to study the retinal cell-specific deficiencies caused by LHON-linked ND6P25L mutation. Retinas from Wildtype and ND6 mutant mice of 7 month old was dissected and analyzed by scRNA-seqLeber遗传性视神经病变（Leber hereditary optic neuropathy, LHON）是由线粒体DNA（mitochondrial DNA, mtDNA）突变引发的视网膜病变的经典研究模型。然而，LHON相关mtDNA突变导致视网膜细胞特异性损伤的分子机制仍未完全阐明，目前针对该疾病尚无有效的治疗手段或治愈方案。本研究采用单细胞RNA测序（single-cell RNA sequencing, scRNA-seq）技术，探究LHON关联的ND6P25L突变所引发的视网膜细胞特异性缺陷。研究者对7月龄野生型与ND6突变型小鼠的视网膜组织进行解剖分离，并通过scRNA-seq完成相关分析。