An international team of researchers led by scientists from Rockefeller’s St. Giles Laboratory of Human Genetics and Infectious Diseases has now identified the defective gene responsible for this rare disorder. The findings, reported today in Science Express, may lead to new diagnostic tests and raises new questions about the role of this gene in the body’s protein-making machinery.
Medically known as isolated congenital asplenia (ICA), this condition has only been officially documented in less than 100 cases in the medical literature. Alexandre Bolze, a visiting student in the St. Giles lab, headed by Jean-Laurent Casanova, set out to identify the gene responsible for ICA. He and his colleagues conducted an international search for ICA patients, and identified 38 affected individuals from 23 families in North and South America, Europe and Africa.
Bolze and his team sequenced 23 exomes – all DNA of the genome that is coding for proteins – one from each family. After filtering two public databases of genetic information for gene variations in controls, the researchers were left with more than 4,200 possible genes. To narrow this list of candidate genes further, Bolze hypothesized that the disease-causing gene would be more frequently mutated in the ICA exomes compared to control exomes. He then compared the exome sequences of the 23 ICA kindreds with exomes sequenced in the Casanova lab from 508 patients with diseases other than those caused by bacterial infections. After applying statistical algorithms, Bolze found one gene with high significance: RPSA, which normally codes for a protein found in the cell’s protein-synthesizing ribosome.
“These results are very clear, as at least 50 percent of the patients carry a mutation in RPSA,” says Bolze. “Moreover, every individual carrying a coding mutation in this gene lacks a spleen.”
The findings, Bolze says, are surprising because the ribosome is present in every organ of the body, not just the spleen. “These results raise many questions. They open up many research paths to understand the specific role of this protein and of the ribosome in the development of organs in humans.”
Joseph Bonner | Newswise
A Map of the Cell’s Power Station
18.08.2017 | Albert-Ludwigs-Universität Freiburg im Breisgau
On the way to developing a new active ingredient against chronic infections
18.08.2017 | Deutsches Zentrum für Infektionsforschung
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
18.08.2017 | Life Sciences
18.08.2017 | Physics and Astronomy
18.08.2017 | Materials Sciences