Belyaeva Anna, Perepelina Kseniya, Kuznetsova Evdokia, Smirnova Daria, Yakovleva Tatyana, Turilova Victoria, Neganova Irina, Shatrova Alla, Fomicheva Yuliya, Peregudina Olga, Vasichkina Elena, Kostareva Anna, Malashicheva Anna
Institute of Cytology, Russian Academy of Science, Saint-Petersburg, 194064, Russia.
Almazov National Medical Research Centre, Saint-Petersburg, 197341, Russia.
Hum Cell. 2025 Mar 19;38(3):71. doi: 10.1007/s13577-025-01203-0.
Singleton-Merten syndrome (SMS) is a rare genetic condition associated with abnormal calcification and skeletal anomalies. To explore the underlying mechanisms of this disorder, we generated induced pluripotent stem cells (iPSCs) from the blood cells of a patient with SMS. The iPSCs retain the genetic mutation linked to the syndrome, making them a relevant model for studying disease-specific processes. These cells display all key features of pluripotent stem cells, including the expression of characteristic markers, the ability to differentiate into cell types from all three germ layers, and stable growth during passaging. These iPSCs provide a valuable tool for investigating the processes involved in SMS, particularly those leading to abnormal calcification. They also offer a platform for testing potential therapeutic strategies aimed at addressing SMS-related complications. Future work will focus on directing these cells into specific cell types to better understand the pathways involved in the disease and identify possible treatment targets. This study highlights the potential of patient-derived iPSCs for advancing research into rare genetic disorders.
辛格尔顿 - 默滕综合征（SMS）是一种与异常钙化和骨骼异常相关的罕见遗传病。为了探究这种疾病的潜在机制，我们从一名SMS患者的血细胞中生成了诱导多能干细胞（iPSC）。这些iPSC保留了与该综合征相关的基因突变，使其成为研究疾病特异性过程的相关模型。这些细胞展现了多能干细胞的所有关键特征，包括特征性标志物的表达、分化为来自所有三个胚层的细胞类型的能力以及传代过程中的稳定生长。这些iPSC为研究SMS所涉及的过程，特别是那些导致异常钙化的过程，提供了有价值的工具。它们还为测试旨在解决与SMS相关并发症的潜在治疗策略提供了一个平台。未来的工作将集中于将这些细胞定向分化为特定的细胞类型，以更好地理解该疾病所涉及的途径并确定可能的治疗靶点。这项研究突出了患者来源的iPSC在推进罕见遗传病研究方面的潜力。
