News of the WeekHuman Genetics

A Gene That Scrambles Your Heart

See allHide authors and affiliations

Science  19 Feb 1999:
Vol. 283, Issue 5405, pp. 1091-1093
DOI: 10.1126/science.283.5405.1091b

You are currently viewing the summary.

View Full Text

Log in to view the full text

Log in through your institution

Log in through your institution


Researchers have identified a gene that appears to be key to a widespread form of congenital heart defects, called DiGeorge syndrome, which is second only to Down syndrome in causing malformations of the heart. The findings, reported on page 1158, may finally end a frantic hunt for the DiGeorge gene, which when damaged or missing prevents a proper connection between the outflow of the heart and the main blood vessels and also causes malformations in the facial bones and thymus gland. Surprisingly, the gene is a component of the cell's protein degradation machinery, supporting the notion that these "garbage disposal" pathways may be important in organ formation.