Congenital heart disease affects 1 percent of live births. Structural abnormalities of the heart valves, including mitral valve prolapse, are common. The only effective treatment is surgical repair or replacement. Dr. Joy Lincoln’s lab is interested in understanding the signaling pathways that are altered during embryonic development that give rise to such valve abnormalities in children. Using funds from an R01 award from NHLBI (HL091878) and a predoctoral fellowship from The American Heart Association (13PRE16270014), the lab’s findings suggest that the transcription factor Scleraxis, plays an important role in valvulogenesis and when miss-expressed, can promote phenotypes associated with mitral valve prolapse.
The lab is currently extending this work and generating a genetic mouse model of this disease that will provide further insight into the pathogenesis of this common childhood disease.
Barnette DN, Hulin A, Ahmed AS, Colige AC, Azhar M, Lincoln J. TgfÎ²-Smad and MAPK signaling mediate scleraxis and proteoglycan expression in heart valves. Journal of Molecular and Cellular Cardiology. 2013 Oct 21. [Epub ahead of print]