Department of Biology, Trent University, 1600 West Bank Drive, Peterborough, ON K9L 0G2, Canada.
Cells. 2019 Feb 2;8(2):115. doi: 10.3390/cells8020115.
The neuronal ceroid lipofuscinoses (NCLs) are a group of devastating neurological disorders that have a global distribution and affect people of all ages. Commonly known as Batten disease, this form of neurodegeneration is linked to mutations in 13 genetically distinct genes. The precise mechanisms underlying the disease are unknown, in large part due to our poor understanding of the functions of NCL proteins. The social amoeba has proven to be an exceptional model organism for studying a wide range of neurological disorders, including the NCLs. The genome contains homologs of 11 of the 13 NCL genes. Its life cycle, comprised of both single-cell and multicellular phases, provides an excellent system for studying the effects of NCL gene deficiency on conserved cellular and developmental processes. In this review, we highlight recent advances in NCL research using as a biomedical model.
神经元蜡样脂褐质沉积症（NCLs）是一组具有全球分布的破坏性神经退行性疾病，影响所有年龄段的人群。这种神经退行性疾病通常被称为巴滕病，与 13 个不同基因的突变有关。由于我们对 NCL 蛋白功能的了解有限，因此疾病的确切机制尚不清楚。 已被证明是研究包括 NCL 在内的多种神经退行性疾病的极佳模式生物。其基因组包含 13 个 NCL 基因中的 11 个同源物。它的生命周期包括单细胞和多细胞阶段，为研究 NCL 基因缺失对保守细胞和发育过程的影响提供了一个极好的系统。在这篇综述中，我们强调了使用 作为生物医学模型的 NCL 研究的最新进展。
