CReM investigators successfully differentiate human iPS cells into megs and erythroid progenitors
October 31, 2013 Thursday
Researchers from Boston University School of Medicine (BUSM) and Boston Medical Center (BMC) have generated the first known disease-specific induced pluripotent stem cell (iPSC) lines from a patient with familial transthyretin amyloidosis (ATTR). The findings, which are reported in Stem Cell Reports, may lead to new treatments for genetic diseases such as familial amyloidosis. the researchers used the iPSC to generate liver cells that secrete the disease-specific mutant protein as well as cardiac and neuronal cells, the downstream target tissues of the disease. Upon exposure to the mutant protein, the heart and neuronal cells displayed signs of stress and an increased level of cell death as compared to those exposed to normal protein, thereby recreating essential aspects of the disease in vitro. Furthermore, small molecule stabilizers of the mutant protein that are being tested in clinical trials show efficacy in this model, validating this iPSC-based, patient-specific in vitro system as a platform for testing therapeutic strategies.
- Induced Pluripotent Stem Cell Modeling of Multisystemic, Hereditary Transthyretin Amyloidosis