Frank Conlon
University of North Carolina at Chapel Hill, NC·Genetics
Congenital heart disease, or heart defects present at birth, is the most common birth defect. Many forms affect boys and girls at different rates, but why is poorly understood.
- Fields
Genetics
Biology
Physiology
- Topics
congenital heart disease
sex differences
RNA helicase
- Grants
- 1 known grant, through Mar 2030
What they work on
- Test whether DDX3X, an X-linked RNA helicase that escapes X-inactivation, regulates sex-specific mRNA translation in heart muscle cells, using a conditional Ddx3x mouse allele.
- Define how loss of Ddx3x in cardiomyocytes disrupts excitation-contraction coupling in female but not male mouse embryos, causing heartbeat desynchrony by embryonic day 11.5.
- Determine how DDX3X and its translation-machinery partners in the cardiac interactome control target mRNAs essential for excitation-contraction coupling.
More about the research
This project asks how a gene on the X chromosome helps make female and male hearts develop differently.
Why it matters
Congenital heart disease disproportionately affects females, and its sex-specific causes are unclear. Showing how DDX3X controls protein production in the female heart could reveal why girls are more vulnerable. It may also inform precision medicine approaches toward sex-specific therapies for congenital heart disease.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Stefan Pinter
University of Connecticut, CT·Genetics
Link specific X/Y gene pairs and downstream pathways to impaired placental gene expression in monosomy-X, using trophoblast models derived from matched monosomy-X and normal human induced pluripotent stem cells.
Peng Yao
University of Rochester, NY·Physiology
Determine how FAM210A regulates mitochondrial calcium balance, testing whether it acts as a regulator of the calcium/proton exchanger LETM1 in cardiomyocytes, in vitro and in vivo.
Stefano Morotti
University of California-Davis, CA·Physiology
Identify key molecular and cellular changes in excitation-contraction coupling, the link between electrical signals and heartbeats, in a mouse model of heart failure with preserved ejection fraction (HFpEF), using functional and transcriptomic data.
The school
University of North Carolina at Chapel Hill: 72 labs on PI Pages, $1.6B a year on research, 523 research doctorates a year.
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