Division of Pediatric Surgery, Department of Surgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
The Johns Hopkins Children's Center, Johns Hopkins Hospital, Baltimore, MD, USA.
Nat Commun. 2024 Oct 7;15(1):8613. doi: 10.1038/s41467-024-52216-6.
Short bowel syndrome (SBS) leads to severe morbidity and mortality. Intestinal adaptation is crucial in improving outcomes. To understand the human gene pathways associated with adaptation, we perform single-cell transcriptomic analysis of human small intestinal organoids explanted from mice with experimental SBS. We show that transmembrane ion pathways, specifically the transepithelial zinc transport pathway genes SLC39A4 and SLC39A5, are upregulated in SBS. This discovery is corroborated by an external dataset, bulk RT-qPCR, and Western blots. Oral zinc supplementation is shown to improve survival and weight gain of SBS mice and increase the proliferation of intestinal crypt cells in vitro. Finally, we identify the upregulation of SLC39A5 and associated transcription factor KLF5 in biopsied intestinal tissue specimens from patients with SBS. Thus, we identify zinc supplementation as a potential therapy for SBS and describe a xenotransplantation model that provides a platform for discovery in other intestinal diseases.
短肠综合征(SBS)会导致严重的发病率和死亡率。肠道适应对于改善预后至关重要。为了了解与适应相关的人类基因途径,我们对从小鼠实验性 SBS 中分离的小肠类器官进行了单细胞转录组分析。我们发现,跨膜离子途径,特别是跨上皮锌转运途径基因 SLC39A4 和 SLC39A5,在 SBS 中上调。这一发现得到了外部数据集、批量 RT-qPCR 和 Western blot 的证实。锌补充剂的口服补充被证明可以提高 SBS 小鼠的存活率和体重增加,并增加体外肠隐窝细胞的增殖。最后,我们在 SBS 患者的活检肠组织标本中发现 SLC39A5 和相关转录因子 KLF5 的上调。因此,我们确定锌补充剂是 SBS 的一种潜在治疗方法,并描述了一种异种移植模型,为其他肠道疾病的发现提供了一个平台。