The upside of a demolished chromosome | Science News

ADVERTISEMENT

MISSION CRITICAL

Support credible science journalism.

Subscribe to Science News today.


How Bizarre

The upside of a demolished chromosome

A lucky woman lost the mutated gene that had caused her rare genetic disease

By
1:00pm, March 17, 2015
shattered chromosome

DESTRUCTIVE HEALING   A chromosome that shattered and reassembled — usually a calamitous event — actually healed a woman’s inherited disease.

A shattered chromosome cured a woman of a rare genetic disease. The woman had been diagnosed as a child with WHIM syndrome, an immune disease caused by a mutation in a gene called CXCR4.

Like other WHIM syndrome patients, the woman had an extreme number of warts and was frequently hospitalized with infections. But at about age 38, those symptoms mysteriously disappeared.

Researchers at the National Institutes of Health in Bethesda, Md., examined the woman’s DNA and found that some of her blood cells were missing the mutant copy of CXCR4 and 163 other genes. In one of her blood-forming stem cells, the chromosome carrying the mutant gene had shattered and reassembled Humpty-Dumpty style, leaving out some genes, the researchers report in the Feb. 12 Cell.

This article is available only to subscribing members. Join the Society today or Log in.

Get Science News headlines by e-mail.

More from Science News

From the Nature Index Paid Content