Glomerulopathies affect kidney glomeruli and can lead to end‐stage renal disease if untreated. Clinical and experimental evidence have identified numerous (>20) genetic mutations in the mitochondrial coenzyme Q8B protein (COQ8B) primarily associated with nephrotic syndrome. Yet, little else is understood about COQ8B activity in renal pathogenesis and its role in mitochondrial dysfunction. We identified additional novel COQ8B mutations in a glomerulopathy patient and aimed to define the potential structural and functional defects of COQ8B mutations.

中文翻译：

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新的COQ8B突变在肾小球病和相关肾脏缺陷中的作用

肾小球病会影响肾小球，如果不及时治疗，可能导致晚期肾病。临床和实验证据已经证实，主要与肾病综合征相关的线粒体辅酶Q8B蛋白（COQ8B）中有许多（> 20）基因突变。然而，关于COQ8B在肾脏发病机制中的活性及其在线粒体功能障碍中的作用，人们了解得很少。我们在肾小球病患者中发现了其他新的COQ8B突变，旨在定义COQ8B突变的潜在结构和功能缺陷。