論文の公開元へDifferentiation of Hypertrophic Chondrocytes from Human iPSCs for the In Vitro Modeling of Chondrodysplasias
概要
Chondrodysplasias are hereditary cartilage disorders,
which often manifest by early childhood as mild to severe
skeletal abnormalities due to mutations in the components
of growth cartilage. In multiple epiphyseal dysplasia (MED;
OMIM #607078) and metaphyseal chondrodysplasia type
Schmid (MCDS; OMIM #156500), short-limbed dwarfism
and deformities of the hips or knees are commonly
observed (Czarny-Ratajczak et al., 2001; Ma¨kitie et al.,
2005), but large variations in the skeletal phenotype and
disease severity between patients have made these diseases
difficult to research and treat. To overcome the obstacles
posed by this heterogeneity and deepen our understanding
of chondrodysplasias, it is imperative to obtain relevant patient samples and establish accurate disease models.
However, as it is ethically questionable to obtain samples
from patients’ growth plates, much of our understanding of
chondrodysplasia disease mechanisms has come from
studies of animal models. ...
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