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:3/27/2017)... ... March 27, 2017 , ... Golden Triangle ... 8:00am-10:00am on Monday, April 3rd to commemorate the two-year anniversary of the facility. ... area-residents to celebrate two great years while also familiarizing themselves with the facility. ...
(Date:3/26/2017)... ... March 26, 2017 , ... ... the RealSelf 100 Award, a prestigious award honoring the top influencers on RealSelf—the ... find and connect with doctors and clinics. , In 2016, more than 82 ...
(Date:3/24/2017)... ... March 24, 2017 , ... Vighter established its NAEMT ... by providing Prehospital Trauma Life Support (PHTLS) course scholarships to four medics assigned ... education developed in cooperation with the American College of Surgeons to promote critical ...
(Date:3/24/2017)... (PRWEB) , ... March 24, 2017 , ... The ... Quest Awards . The annual awards, now in their 12th year, are among ... selects the winners. , In 2016, the awards were retooled to recognize achievements in ...
(Date:3/24/2017)... ... March 24, 2017 , ... Mlynarek Insurance Agencies, a ... and business owners across eastern Michigan, is connecting with the Oxford/Orion FISH Food ... difficulties. , The Oxford/Orion FISH Food Pantry works to ensure homeless, hungry, and ...
Breaking Medicine News(10 mins):
(Date:3/24/2017)... and PUNE, India , March 24, 2017 ... and is estimated to reach $2,614 million by 2022, Globally, registering a CAGR of ... generate the highest revenue, and is projected to dominate the market during the study ... ... Allied Market Research Logo ...
(Date:3/24/2017)... , March 24, 2017  Zymo ... company, and Hamilton Robotics, Inc., who designs, ... an ongoing collaboration that teams Zymo Research,s ... RNA and DNA extraction products with Hamilton,s ... created optimized methods for microbiomics and RNA ...
(Date:3/24/2017)... Research and Markets has announced the addition of ... their offering. ... analyzes the worldwide markets for Dental Implants in US$ Million. The report ... Japan , Europe , ... World. Annual estimates and forecasts are provided for the ...
Breaking Medicine Technology: