Navigation Links
Scientists discover gene mutation that causes children to be born without spleen
Date:4/11/2013

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."


'/>"/>

Contact: Joseph Bonner
joseph.bonner@rockefeller.edu
212-327-8998
Rockefeller University
Source:Eurekalert

Related medicine news :

1. Scientists solving the mystery of human consciousness
2. Scientists uncover multiple faces of deadly breast cancer
3. Scientists identify major source of cells defense against oxidative stress
4. Scientists tailor cell surface targeting system to hit organelle ZIP codes
5. Scientists rewrite rulebook on breast cancer in landmark global study
6. Warwick scientists uncover how checkpoint proteins bind chromosomes
7. NIH scientists link quickly spreading gene to Asian MRSA epidemic
8. Joslin scientists identify important mechanism that affects the aging process
9. Scripps Research scientists show how memory B cells stay in class to fight different infections
10. Scientists Map Melanomas Genome
11. A*STAR scientists discover switch to boost anti-viral response to fight infectious diseases
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/28/2017)... , ... June 28, 2017 , ... ... is pleased to announce that a two year study conducted by the University ... Creek zeolite was successful in remediating potash brine-impacted groundwater. As a part of ...
(Date:6/28/2017)... VA (PRWEB) , ... June 28, 2017 , ... ... protection assistance and financial consultations to communities in northern Virginia and DC, is ... to help provide for patients with Alzheimer’s and other disorders that lead to ...
(Date:6/27/2017)... ... June 27, 2017 , ... Nearly 70 percent of ... released today by the American Society for Dermatologic Surgery (ASDS). , ... of consumers considering a cosmetic medical procedure has doubled since 2013. , “Cosmetic ...
(Date:6/27/2017)... ... June 27, 2017 , ... Salucro, the ... the health care industry’s hospitals and provider groups, has announced that it will ... customers. Parasail Health is a San Francisco health-finance startup that has launched a ...
(Date:6/27/2017)... ... ... From June 20-22, EarQ and Widex held an exclusive training ... EarQ is headquartered. , Together, the organizations educate hearing care professionals on how ... the latest in hearing technology. At the event, EarQ members got an in-depth ...
Breaking Medicine News(10 mins):
(Date:6/5/2017)... , June 5, 2017 Kohll,s Pharmacy ... the United States . The Raizer is ... a fallen person up to an almost-standing position ... and operated by one assistant and does not ... is simple enough that a child can operate it, ...
(Date:6/1/2017)... 2017 Nutriceutical Holdings (NH), parent company of ... and KD Pharma Group have decided to join forces ... Pharma Group. KD Pharma Group will become the largest ... the entire company. "We believe we have ... to growing the NH companies by providing us with ...
(Date:5/30/2017)... May 30, 2017 Therapix Biosciences Ltd. (Nasdaq: ... in the development of cannabinoid-based drugs, today announced ... overview at three upcoming scientific and investor conferences ... Micro Invitational: ... Date:                     Wednesday, ...
Breaking Medicine Technology: