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通过iPSC-肝细胞对家族MASH进行建模

Cristina Esteva-Font, Jacquelyn J Maher, Eric Rulifson

medRxiv : the preprint server for health sciences

|December 3, 2025

概括

研究人员使用来自遗传代谢功能障碍相关脂肪肝炎 (MASH) 家庭的诱导肝细胞 (iHeps) 来创建更好的临床前模型. 这种方法揭示了疾病的复杂性和iHeps在研究人类肝脏疾病方面的力量.

科学领域:

肝病学肝病学是一种肝病学.
干细胞生物学干细胞生物学
遗传学遗传学是一个

背景情况:

由于肥胖,代谢功能障碍相关的脂肪性肝病 (MASLD) 和其进展到代谢功能障碍相关的脂肪性肝炎 (MASH) 正在增加.
MASH可以导致炎症,纤维化,肝硬化和肝细胞癌.
目前的临床前模型,包括细胞系和小鼠模型,不能准确地复制人类MASH病原体.

研究的目的:

开发一个可靠的临床前平台来研究人类遗传MASH.
使用患者衍生诱导肝细胞 (iHeps) 进行MASH病变发生的特征.

主要方法:

确定了具有遗传MASH倾向的家庭.
将患者皮肤纤维细胞重新编程成诱导多能干细胞 (iPSC).
将差异化的iPSCs转化为肝细胞 (iHeps),用于疾病建模和分析脂肪,细胞亡,线粒体功能和ER压力.

主要成果:

与对照组相比,MASH家族的iHeps表现出基线肥胖症的增加.
在MASH患者中,整体外基因组测序确定了不清楚意义的单核酸多态 (SNP).
患者对TM6SF2 E167K SNP具有异构性,这是iHeps.中探索的一项发现.

结论:

人类遗传MASH是复杂的.
来自患者的iHeps为表征MASH等复杂的人类肝脏疾病提供了强大的工具.
这项研究强调了iHeps在推动MASH研究和药物开发方面的潜力.

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