Pearson marrow pancreas syndrome (PMPS) is a sporadic mitochondrial disease, resulting from the clonal expansion of a mutated mitochondrial DNA (mtDNA) molecule bearing a macro-deletion, and therefore missing essential genetic information. PMPS is characterized by the presence of deleted (Δ) mtDNA that co-exist with the presence of a variable amount of wild-type mtDNA, a condition termed heteroplasmy. All tissues of the affected individual, including the haemopoietic system and the post-mitotic, highly specialized tissues(brain, skeletal muscle, and heart) contain the large-scale mtDNA deletion in variable amount. We generated human induced pluripotent stem cells (hiPSCs) from two PMPS patients, carrying different type of large-scale deletion.

皮尔逊骨髓胰腺综合征（PMPS）是一种散发的线粒体疾病，是由携带大缺失的突变线粒体DNA（mtDNA）分子的克隆扩增引起的，因此缺少必要的遗传信息。PMPS的特征是缺失的（Δ）mtDNA与可变数量的野生型mtDNA（称为异质性）共存。受影响个体的所有组织，包括造血系统和有丝分裂后高度专业化的组织（大脑，骨骼肌和心脏）均含有可变数量的大规模mtDNA缺失。我们从两名PMPS患者中产生了人类诱导的多能干细胞（hiPSC），它们携带着不同类型的大规模缺失。