Vacca Fabrizio, Yalcin Binnaz, Ansar Muhammad
Department of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile Des Aveugles, Lausanne, Switzerland.
Inserm UMR1231, Université de Bourgogne, Dijon, France.
Front Neurosci. 2024 Jul 1;18:1431400. doi: 10.3389/fnins.2024.1431400. eCollection 2024.
Cohen Syndrome (CS) is a rare autosomal recessive disorder caused by biallelic mutations in the gene. It is characterized by multiple clinical features, including acquired microcephaly, developmental delay, intellectual disability, neutropenia, and retinal degeneration. VPS13B is part of the bridge-like lipid transport (BLTP) protein family, which in mammals also includes VPS13A, -C, and -D. The proteins of this family are peripheral membrane proteins with different sub-cellular localization, but all share similar structural features and have been proposed to act as lipid transport proteins at organellar membrane contact sites. VPS13B is localized at the Golgi apparatus and is essential for the maintenance of organelle architecture. Here we present a review of the experimental data on the function of the protein at the cellular level, discussing the potential link with disease phenotype and review the studies on animal models recapitulating features of the human disease.
科恩综合征（CS）是一种由该基因双等位基因突变引起的罕见常染色体隐性疾病。其特征为多种临床症状，包括后天小头畸形、发育迟缓、智力残疾、中性粒细胞减少和视网膜变性。VPS13B是桥样脂质转运（BLTP）蛋白家族的一部分，在哺乳动物中该家族还包括VPS13A、-C和-D。这个家族的蛋白质是外周膜蛋白，具有不同的亚细胞定位，但都具有相似的结构特征，并且被认为在细胞器膜接触位点充当脂质转运蛋白。VPS13B定位于高尔基体，对维持细胞器结构至关重要。在此，我们对该蛋白在细胞水平功能的实验数据进行综述，讨论其与疾病表型的潜在联系，并回顾模拟人类疾病特征的动物模型研究。
