Congenital Heart Defect Caused by Gene

With the gene that causes congenital heart defects being identified, Princeton researchers hope to develop new treatment that would target the gene.

The newly discovered gene, called CCDC40 (for "coiled coil domain containing protein 40"), controls right-to-left patterning as tissues develop, a critical factor in the configuration and effectiveness of organs.

Scientists found the gene by zeroing in on zebrafish and mice in which the placement, and sometimes the internal structure, of organs is disrupted or reversed.

While these so-called "left-right patterning" defects occur very rarely in zebrafish and mice, they occur at high frequency in the animals with mutated CCDC40 genes.

Loss of the gene that produces the protein CCDC40 in zebrafish or mice leads to defects in the asymmetric placement of organs in the body.

"We used the strengths of different model organisms to gain an understanding of how a novel protein, produced by this new gene, functions," said Irene Zohn, who led a research group studying mice.

The group found that the genes were specifically turned on in cells that produce motile cilia, important hair-like fibers that project from the surface of cells.

By knowing the gene and the properties conferred by its mutated version, scientists may be able to better treat those with the mutant gene and its accompanying respiratory disorders.

Researchers eventually may be able to devise genetic repairs to impaired cilia, said Burdine.

The study was published Nature Genetics.

Source: ANI