Gene expression profile at single cell level from mitral valves of wild-type and Fbn1 C1039G/+ mice at 1 month-of-age

Myxomatous valve disease is the most common form of heart valve disease leading to morbidity and mortality worldwide. It is primarily associated with inherited connective tissue disorders caused by genetic variants in extracellular matrix genes such as Marfan syndrome. Mice with Fibrillin 1 gene variant Fbn1 C1039G/+ recapitulate histopathological features of Marfan syndrome. However, the cell heterogeneity and changes of gene expression at single cell level in Marfan syndrome valves are completed unknown. Overall design: Mitral valves from 5 wild-type and 3 Fbn1 C1039G/+ mice at 1 month-of-age were dissected separately and pooled together by genotype for subsequent single-cell dissociation and single-cell RNA sequencing.

黏液瘤性瓣膜病（Myxomatous valve disease）是全球范围内引发心脏瓣膜病相关发病与死亡的最常见类型。该疾病主要与细胞外基质（extracellular matrix）基因存在遗传变异所导致的遗传性结缔组织疾病相关，例如马方综合征（Marfan syndrome）。携带原纤维蛋白1基因（Fibrillin 1）变异Fbn1 C1039G/+的小鼠，可重现马方综合征瓣膜的组织病理学特征。然而，目前针对马方综合征瓣膜中的细胞异质性及单细胞水平的基因表达变化仍完全未知。实验整体设计：分别解剖获取5只1月龄野生型小鼠与3只Fbn1 C1039G/+小鼠的二尖瓣，按基因型分别混合后进行后续的单细胞解离与单细胞RNA测序（single-cell RNA sequencing）。