In:
eLife, eLife Sciences Publications, Ltd, Vol. 7 ( 2018-03-14)
Abstract:
In 1907, George Hoyt Whipple – an American pathologist working at Johns Hopkins University in Baltimore – described a new inflammatory disease that affects the intestine. Patients with this condition, now known as Whipple’s disease, experience diarrhea, weight loss, and abdominal and joint pain. The disease is rare; it affects about one in a million people, mostly those over the age of 50 who are of European descent. Later it was discovered that bacteria called Tropheryma whipplei cause Whipple’s disease and that antibiotics can cure it. These bacteria are widespread and yet only a small minority of individuals infected with T. whipplei goes on to develop Whipple’s disease. In some populations, over 50% of individuals have been infected with the bacteria at some point in their lives, but most will get rid of the infection. This raised the question: when exposed to the same microbe, why do some individuals develop a severe disease, while others remain unharmed? From the 1950s onwards, scientists identified a few families with multiple members who have developed Whipple’s disease. These observations suggested that human genes may play a role in determining whether a person infected with T. whipplei becomes ill. Rare genetic mutations that affect the immune system have also been linked to the development of life-threatening cases of influenza or tuberculosis. Now, Guérin et al. report that, in one French family, an extremely rare mutation in the gene that codes for a protein called IRF4 may contribute to the development of Whipple’s disease. This family had four members with Whipple’s disease, all of whom had one copy of the gene with this rare mutation and one normal copy of the gene. The IRF4 protein acts like a switch that turns on and off some genes involved in the body’s response to infection. In patients with this mutation, the IRF4 protein does not work as it should. Guérin et al. suggest that Whipple’s disease may be caused by specific genetic mutations affecting the immune system in subjects infected by T. whipplei. More studies are needed to see if other genetic mutations also contribute to other cases of Whipple’s disease. Such studies may help physicians to better understand why some people become sick after T. whipplei infections while others do not. They may also help physicians to diagnose the disease, and even lead to better treatments.
Type of Medium:
Online Resource
ISSN:
2050-084X
DOI:
10.7554/eLife.32340.001
DOI:
10.7554/eLife.32340.037
DOI:
10.7554/eLife.32340.002
DOI:
10.7554/eLife.32340.004
DOI:
10.7554/eLife.32340.005
DOI:
10.7554/eLife.32340.003
DOI:
10.7554/eLife.32340.006
DOI:
10.7554/eLife.32340.008
DOI:
10.7554/eLife.32340.007
DOI:
10.7554/eLife.32340.009
DOI:
10.7554/eLife.32340.010
DOI:
10.7554/eLife.32340.011
DOI:
10.7554/eLife.32340.012
DOI:
10.7554/eLife.32340.013
DOI:
10.7554/eLife.32340.014
DOI:
10.7554/eLife.32340.015
DOI:
10.7554/eLife.32340.016
DOI:
10.7554/eLife.32340.017
DOI:
10.7554/eLife.32340.029
DOI:
10.7554/eLife.32340.018
DOI:
10.7554/eLife.32340.019
DOI:
10.7554/eLife.32340.020
DOI:
10.7554/eLife.32340.021
DOI:
10.7554/eLife.32340.022
DOI:
10.7554/eLife.32340.023
DOI:
10.7554/eLife.32340.024
DOI:
10.7554/eLife.32340.026
DOI:
10.7554/eLife.32340.027
DOI:
10.7554/eLife.32340.028
DOI:
10.7554/eLife.32340.030
DOI:
10.7554/eLife.32340.035
DOI:
10.7554/eLife.32340.036
DOI:
10.7554/eLife.32340.031
DOI:
10.7554/eLife.32340.032
DOI:
10.7554/eLife.32340.033
DOI:
10.7554/eLife.32340.034
Language:
English
Publisher:
eLife Sciences Publications, Ltd
Publication Date:
2018
detail.hit.zdb_id:
2687154-3
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