Rare Disease to Inform Ebola Susceptibility?

Parents of children with the fatal genetic disease Niemann-Pick Type C are taking an active role in research to understand how mutations associated with the disease may protect against Ebola.

Written byJef Akst
| 2 min read

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Brian Chan with his daughter Galya, who has NPC, and her twin brother Ezra, who is an NPC carrierCOURTESY OF BRIAN CHANA protein encoded by a gene linked to the rare, fatal disease Niemann-Pick Type C (NPC) is required for the Ebola virus to infect our cells and replicated within them. This surprising link between the genetic disease and the deadly virus now ravaging parts of West Africa was first identified in 2011; now researchers are taking advantage by studying the parents of children with NPC.

These parents are each carriers of a mutated NPC1 gene, which encodes the protein NPC1. Their children inherited a mutant copy from each parent, resulting in the development of NPC disease. A few years ago, studying mice that similarly carry one normal copy of NPC, just like the parents of kids suffering from NPC, an international group of researchers found that the animals were susceptible to Ebola, but many survived the infection, The Wall Street Journal reported. On the other hand, mice carrying two good copies of the gene all died after contracting Ebola. And all mice that lacked both functioning copies of the gene survived. The team published their results in Nature in 2011. In the same issue, an independent group also published evidence ...

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  • Jef (an unusual nickname for Jennifer) got her master’s degree from Indiana University in April 2009 studying the mating behavior of seahorses. After four years of diving off the Gulf Coast of Tampa and performing behavioral experiments at the Tennessee Aquarium in Chattanooga, she left research to pursue a career in science writing. As The Scientist's managing editor, Jef edited features and oversaw the production of the TS Digest and quarterly print magazine. In 2022, her feature on uterus transplantation earned first place in the trade category of the Awards for Excellence in Health Care Journalism. She is a member of the National Association of Science Writers.

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