On the 7th of October, our article titled: "Effects of fibrillin mutations on the behavior of heart muscle cells in Marfan syndrome" was published in the journal Scientific Reports, Nature.
The article describes the first in vitro cardiomyocyte model of Marfan Syndrome.
You can access the article for free by clicking here.
A short abstract can be read below:
Marfan syndrome is a systemic disorder caused by defects in fibrillin-1, a matrix protein. Cardiovascular manifestations, particularly in the aorta, are the most life-threatening consequences. Accumulating evidence from patients and mouse models indicates that Marfan syndrome is also causing a primary cardiomyopathy, but little is known about the mechanism. In this study, induced pluripotent stem cells derived from a Marfan syndrome patient were differentiated to heart muscle cells. This provides a unique alternative approach to study Marfan cardiomyopathy. Here we report the first and only cardiac cell culture model for Marfan syndrome, revealing abnormalities in the behavior of Marfan heart muscle cells that are related to matrix defects. Based on these results, we postulate that impaired support from the extracellular environment plays a key role in the improper functioning of heart muscle cells in Marfan syndrome.