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:2/12/2016)... ... February 12, 2016 , ... Basketball is a game ... part of the Peety PoppersTM series, sign language translation is featured in the top ... and wellness in Peety PoppersTM lessons has a sign language translator to teach kids ...
(Date:2/12/2016)... Phoenix, AZ (PRWEB) , ... February 12, 2016 , ... ... Health Arizona General Hospital Emergency Room –Mesa. The new facility is licensed under ... Valley. , “Dr. Bingham is an excellent leader and will ensure our new ...
(Date:2/11/2016)... ... February 11, 2016 , ... According to an ... marketed as a weight loss dietary supplement, is being recalled due to the discovery ... Physicians, because there is not a single supplement on the market proven to help ...
(Date:2/11/2016)... ... ... Registered nurses, licensed practical nurses and nursing aides who treat stroke patients ... to Heal” on Thursday, February 25 from 9:00 to 11:00 a.m. at the ... of ANSA Consultants, who will discuss clinical best practices throughout the continuum of stroke ...
(Date:2/11/2016)... ... 12, 2016 , ... The Journal of Pain Research has seen ... SJR uses data taken from the Scopus database (Elsevier B.V.) and is a measure ... by the journal over a three year period and also the importance of the ...
Breaking Medicine News(10 mins):
(Date:2/11/2016)... , February 11, 2016 --> ... of a new research report, titled "Sports Medicine Devices Market ... 2013 - 2019". According to the report, the global sports ... CAGR from 2013 to 2019, growing from a value of ... --> --> The global sports ...
(Date:2/11/2016)... -- Jeffrey Zucker , vice president of ... at this year,s Summit for Clinical Operations Executives (SCOPE), being ... Miami, FL. Zucker will discuss how sponsors can ... SCOPE,s "Improving Site Study Activation and Performance" portion of the ... at 11:05 a.m. --> --> ...
(Date:2/11/2016)... , February 11, 2016 F ast ... answers at the ... world-leading provider of scientific, technical and medical information products and services, has ... evidence-based, peer reviewed clinical information via a mobile device. Elsevier designed the ... for Nursing. The new app is available in Android and ...
Breaking Medicine Technology: