The study is being published September 14 in Science X-Press, an advanced, online edition of the journal Science.
In the study, the researchers suggest that herpes simplex encephalitis may reflect a single gene immunodeficiency that confers susceptibility to herpes simplex virus, an idea that contrasts with the prevailing scientific theory of how genes work to make people vulnerable to infections. These new findings, the study added, may apply to other infectious diseases as well.
In the study, scientists focused on blood cells from two French children with a deficiency for UNC-93B, an endoplasmic reticulum protein involved in the recognition of pathogens. When infected with herpes simplex virus-1, the UNC-93B-deficient cells were unable to produce natural interferons alpha, beta, and gamma (IFNs -?/? and -?). Interferons are produced by the immune system to fight infections and tumors.
This deficiency resulted in high rates of herpes simplex virus-1 proliferation and cell death. Assuming these findings extend to neurons, they provide a plausible mechanism for herpes simplex encephalitis.
"We and our colleagues have identified recessive UNC-93B deficiency as a genetic etiology of herpes simplex encephalitis in otherwise healthy patients," said Professor Bruce Beutler, M.D., one of three Scripps Research scientists who contributed to the study. "The discovery of this genetic cause for herpes simplex encephalitis not only broadens our understanding of these types of immunodeficiencies, but also has important therapeutic implications-some of these patients could benefit from recombinant interferon alpha (IFN-?) treatment, just as patients with low levels of naturally occurring interferon gamma (IFN-?) benefit from a similar life-saving approach."
Herpes simplex virus-1 is a common virus that infects about 80 percent of young adults worldwide. Herpes simplex encephalitis, a viral infection of the brain that affects otherwise healthy patients, affects an extremely small percentage of those infected with herpes simplex virus-1: the number of annual cases is two per million people, according to the University of Maryland Medical Center.
Nonetheless, herpes simplex encephalitis, which was first described in 1941, is the most common type of sporadic viral encephalitis in developed countries, accounting for about 10 to 20 percent of all viral encephalitis cases, according to the University of Maryland Medical Center. Before the advent of anti-viral drugs vidarabine in 1973 and acyclovir in 1981, mortality rates reached up to 70 percent. While the introduction of anti-viral treatment has been a boon to patients, brain damage still poses a substantial risk.
"In contrast to most current thinking, we suspected that herpes simplex encephalitis susceptibility could be inherited as a monogenic trait resulting in the specific impairment of immunity to herpes simplex virus-1," Beutler said. "Here we have defined a genetic lesion that is permissive for an infection: a trait that most would regard as quintessentially environmental in cause. It is likely that other mutations will also be found to permit herpes simplex virus encephalitis, and likely that other infectious diseases will ultimately be traced to mutations that affect UNC-93B."
Keith McKeown | EurekAlert!
Europe’s Demographic Future. Where the Regions Are Heading after a Decade of Crises
10.08.2017 | Berlin-Institut für Bevölkerung und Entwicklung
Scientists reveal source of human heartbeat in 3-D
07.08.2017 | University of Manchester
Whether you call it effervescent, fizzy, or sparkling, carbonated water is making a comeback as a beverage. Aside from quenching thirst, researchers at the University of Illinois at Urbana-Champaign have discovered a new use for these "bubbly" concoctions that will have major impact on the manufacturer of the world's thinnest, flattest, and one most useful materials -- graphene.
As graphene's popularity grows as an advanced "wonder" material, the speed and quality at which it can be manufactured will be paramount. With that in mind,...
Physicists at the University of Bonn have managed to create optical hollows and more complex patterns into which the light of a Bose-Einstein condensate flows. The creation of such highly low-loss structures for light is a prerequisite for complex light circuits, such as for quantum information processing for a new generation of computers. The researchers are now presenting their results in the journal Nature Photonics.
Light particles (photons) occur as tiny, indivisible portions. Many thousands of these light portions can be merged to form a single super-photon if they are...
For the first time, scientists have shown that circular RNA is linked to brain function. When a RNA molecule called Cdr1as was deleted from the genome of mice, the animals had problems filtering out unnecessary information – like patients suffering from neuropsychiatric disorders.
While hundreds of circular RNAs (circRNAs) are abundant in mammalian brains, one big question has remained unanswered: What are they actually good for? In the...
An experimental small satellite has successfully collected and delivered data on a key measurement for predicting changes in Earth's climate.
The Radiometer Assessment using Vertically Aligned Nanotubes (RAVAN) CubeSat was launched into low-Earth orbit on Nov. 11, 2016, in order to test new...
A study led by scientists of the Max Planck Institute for the Structure and Dynamics of Matter (MPSD) at the Center for Free-Electron Laser Science in Hamburg presents evidence of the coexistence of superconductivity and “charge-density-waves” in compounds of the poorly-studied family of bismuthates. This observation opens up new perspectives for a deeper understanding of the phenomenon of high-temperature superconductivity, a topic which is at the core of condensed matter research since more than 30 years. The paper by Nicoletti et al has been published in the PNAS.
Since the beginning of the 20th century, superconductivity had been observed in some metals at temperatures only a few degrees above the absolute zero (minus...
16.08.2017 | Event News
04.08.2017 | Event News
26.07.2017 | Event News
17.08.2017 | Earth Sciences
17.08.2017 | Life Sciences
17.08.2017 | Materials Sciences