Background aims: Niemann-Pick disease type C1 (NPC) is an autosomal recessive cholesterol-storage disorder characterized by liver dysfunction, hepatosplenomegaly and progressive neurodegeneration. Thus far, studies of NPC mice have been performed mainly to study the brain and neurodegeneration, because degeneration in the brain was known as the primary cause of death in NPC mice. However, NPC is a systemic disease; therefore the purpose of this study was to find the possibility of a general therapeutic effect by applying and tracking transplanted human amniotic epithelial stem cells (hAESC) in NPC mice.
Methods: hAESC were administered to NPC homozygous (NPC(-/-)) mice via intravenous injection from 5 weeks of age; each recipient received 5 × 10(5) cells every other week. The body weight of each of the mice was measured every week, and the survival and state of each mouse was evaluated every day. The weight of the organs was measured, and serum chemistry, histology and the intensity of Filipin staining were evaluated.
Results: The effect of cell transplantation was to extend the life span and reduce the rapid loss of weight. Moreover, alleviation of tissue damage was observed more in hAESC-treated NPC(-/-) mice than in non-treated NPC(-/-) mice. Cholesterol deposition was reduced after transplantation, and the relative weight of the liver was also decreased.
Conclusions: These data show that hAESC could delay the degeneration caused by fatal genetic disorders such as NPC. This study presents the prospect of relief of precipitous disease progression and the therapeutic possibility of applying hAESC to fatal genetic disorders.