The findings in LEOPARD syndrome may additionally provide the first glimpse of a much broader implication -- a potential mechanism for the treatment of other, more common congenital hypertrophy disorders
"The genetic mutations that alter the signaling pathways involved in cardiac development have been implicated in approximately 30 percent of the defects associated with congenital heart diseases," explains the study's senior author Maria Kontaridis, PhD, a scientist in the Division of Cardiovascular Medicine at BIDMC and Assistant Professor of Medicine at Harvard Medical School. "But the molecular underpinnings of these mutations have not been clear. This new work helps illuminate their complex biochemistry."
Kontaridis's lab investigates LEOPARD syndrome and Noonan syndrome, two of a cluster of congenital diseases known as "RASopathies," which are the result of defects caused by mutations in genes in the RAS signaling pathway.
LEOPARD syndrome affects approximately 200 individuals worldwide and is clinically distinguished by multiple lentigines (freckle-like spots on the skin), as well as craniofacial defects, deafness, and blood abnormalities which can give rise to pediatric leukemias. Hypertrophic cardiomyopathy – a thickening of the heart muscle that typically leads to heart failure – is also associated with LS. With the exception of lentigines, Noonan syndrome patients exhibit nearly identical features and pathologies.
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