Stem cell study illuminates the cause of a devastating inherited heart disorder
Findings show that LMNA gene mutations can disrupt the 'identity' of heart muscle cells
PHILADELPHIA--Scientists in the Perelman School of Medicine at the University of Pennsylvania have uncovered the molecular causes of a congenital form of dilated cardiomyopathy (DCM), an often-fatal heart disorder.
This inherited form of DCM -- which affects at least several thousand people in the United States at any one time and often causes sudden death or progressive heart failure -- is one of multiple congenital disorders known to be caused by inherited mutations in a gene called LMNA. The LMNA gene is active in most cell types, and researchers have not understood why LMNA mutations affect particular organs such as the heart while sparing most other organs and tissues.
In the study, published this week in END
This inherited form of DCM -- which affects at least several thousand people in the United States at any one time and often causes sudden death or progressive heart failure -- is one of multiple congenital disorders known to be caused by inherited mutations in a gene called LMNA. The LMNA gene is active in most cell types, and researchers have not understood why LMNA mutations affect particular organs such as the heart while sparing most other organs and tissues.
In the study, published this week in END