The spleen is rarely noticed, until it is missing. In children born without this organ, that doesn't happen until they become sick with life-threatening bacterial infections. 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."
Rockefeller University: http://www.rockefeller.edu
This press release was posted to serve as a topic for discussion. Please comment below. We try our best to only post press releases that are associated with peer reviewed scientific literature. Critical discussions of the research are appreciated. If you need help finding a link to the original article, please contact us on twitter or via e-mail.
As far as agricultural genome research goes, this may be the best thing since sliced bread - wheat bread, that is.
The discovery and culturing of bacteria that eat and excrete electrons means we may soon find out just how little electricity fundamental life requires
The spectacularly well-preserved prehistoric sea creature sported compound eyes, body armor and two spiky claws for grabbing prey
The Beagle's library of more than 400 books has been reconstructed and made freely available in digital form
When the gorilla Willie B. had to move to a tiny cage at the Atlanta Zoo for six months, the vet staff decided to put Thorazine in the Coca-Cola he drank in the morning. Willie responded to the drug as many institutionalized humans do: He shuffled back and forth across his cage with dulled eyes.
An incredibly rare sighting of a Mediterranean monk seal shows how it captures an eight-legged lunch
A newly discovered set of fossilised tracks in the Italian Alps suggests modern salamanders swim and walk much as their ancient cousins did
WASHINGTON (Reuters) - The truism that friends are the family you choose may be more accurate than you might suppose.
Germany’s decision to let midfield Christof Kramer keep playing in the World Cup final yesterday after being slammed in the head was understandable—if this were 1962, anyway. Back then, a little concussion wasn’t seen as much of a big deal. That’s not true anymore, and given the fact that everyone from kids’ coaches to the…
Marine biologists worry that certain species won't survive the shifts in sea acidity that climate change brings. But research on sea grasses along California's coast suggest marine preserves can help.