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article imageRare genetic disease could hold the key to Ebola treatment

By Tim Sandle     Nov 8, 2014 in Science
Scientists are investigating children with the fatal genetic disease Niemann-Pick Type C. This is to understand how mutations associated with the disease may protect against Ebola.
A surprising link between the genetic disease and the Ebola virus has been detected. A protein encoded by a gene linked to the rare, fatal disease Niemann-Pick Type C (NPC) is required for the Ebola virus to infect human cells and replicated within them.
NPC is a genetic disease associated with mutations in NPC1 and NPC2 genes. Half of people with the condition die before they reach the age of 10. Niemann–Pick type C has a wide clinical spectrum. Affected individuals may have enlargement of the spleen and liver.
The parents of children with the disease are each carriers of a mutated NPC1 gene. Their children inherited a mutant copy from each parent, resulting in the development of NPC disease
The connection with Ebola was derived at from studying mice. By using mice that similarly carry one normal copy of NPC, just like the parents of children who are born with from NPC, researchers found that the animals were susceptible to Ebola, but many survived the infection. The survival rates are of interest to scientists.
With the next wave of research, scientists based at the U.S. Army Medical Research Institute of Infectious Diseases are now looking to interfere with Ebola’s use of the NPC1 protein.
In related news, some U.S. biotech companies are attempting to develop an Ebola vaccine. This includes GeoVax, based in Atlanta, and Profectus BioSciences. Although work has begun, the process is likely to be lengthy. With such research, investigating variability in the Ebola glycoprotein is seen as particularly important for the development of vaccines and treatments.
More about Ebola, NiemannPick Type C, Rare disease
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