Navigation Links
Biologists Crack Genetic Code for Specialized Spider Silk

Defects in a single gene can result in two immune system disorders that leave affected individuals vulnerable to frequent or unusually severe infections, according to new findings reported in the August issue of Nature Genetics. The discovery may lead to new diagnostic tests for these two inherited conditions ?immunoglobulin A (IgA) deficiency and common variable immunodeficiency (CVID). Currently, doctors diagnose the conditions by measuring immunoglobulin levels and excluding other causes for lowered immunoglobulin levels; there are no specific tests to detect the two disorders.

A deficiency of IgA ?an important type of infection-fighting antibody found in tears, saliva and other secretions ?affects 1 in 600 people in the western world; CVID is less common but more severe. Both conditions result in a person being more susceptible to pneumonia and to recurring infections of the ear, sinus and gastrointestinal tract. People with CVID also have an increased risk of developing cancers that affect B cells, cells that produce antibodies. Furthermore, IgA deficiency and CVID can predispose to autoimmune diseases, where the immune system turns against the body’s own tissues and organs.

“Most cases of CVID and IgA deficiency are of unknown cause,?notes Josiah Wedgwood, M.D., Ph.D., of the Clinical Immunology Branch of the National Institute of Allergy and Infectious Diseases (NIAID), the component of the National Institutes of Health that funded the study. “To find a specific molecular defect that is the apparent cause of illness in a substantial subset of individuals with these two diseases is extremely important. Not only will this finding enable us to better diagnose these patients, it provides clues to key biochemical pathways that can lead to immunodeficiencies.?/p>

The study was led by Raif Geha, M.D., and Emanuela Castigli, Ph.D., of the Children’s Hospital Boston. The Boston team found specific mutations in a gene known as TACI, which plays a spe cific role in orchestrating the immune response. Defects in TACI were found in 4 of 19 unrelated patients with CVID and in 1 of 16 unrelated patients with IgA deficiency. None of 50 healthy people they studied had a TACI mutation. The scientists believe that it is likely that as yet unidentified genetic defects underlie CVID and IgA deficiency in those cases where TACI was not mutated.

When the scientists further examined four of the five individuals with TACI mutations, they found all four had relatives with the same mutations. Eleven of the 12 identified relatives with CVID or IgA deficiency reported a history of recurrent infections and were also found to have low levels of IgA and/or low levels of another type of antibody, immunoglobulin G (IgG).

TACI mutations interfere with two aspects of the immune response that involve maturation of B cells. Normally, TACI triggers B cells to switch from making immunoglobulin M (IgM), an antibody produced early in the immune response, to making other antibodies such as IgA and IgG. More important, TACI signals B cells to produce antibodies against specific invading bacteria and viruses.

Because TACI mutations are genetically dominant, a person with TACI mutations in one of the two TACI genes he or she inherits is unable to mount a strong antibody response. Each child of a person so affected has a 50 percent chance of inheriting the mutation and being predisposed to IgA deficiency and CVID.

“A test for TACI defects would enable the diagnosis of more children and their relatives with these immune deficiencies,?says Dr. Geha, senior author of the study and the James Gamble Professor of Pediatrics at Harvard Medical School. “Many children who are sick with these disorders are now missed, because they can have normal IgA and IgG levels, yet they still have poor antibody responses and get the same bacterial and virus infections again and again.?/p>

But the gene discovery will not immediately cha nge treatment strategies, notes Dr. Geha. “For the time being, therapy still consists of prophylactic antibiotics or intravenous immunoglobulin infusions every three weeks,?he says.


'"/>

Source:


Related biology news :

1. Biologists discover why 10% of Europeans are safe from HIV
2. Biologists determine genetic blueprint of social amoeba
3. Biologists discover new pathway into plant cells
4. Biologists visualize protein interaction that may initiate viral infection
5. Biologists develop genome-wide map of miRNA-mRNA interactions
6. How healthy is that marsh? Biologists count parasites
7. Biologists find regions of rice domestication
8. Biologists probe the machinery of cellular protein factories
9. Biologists call for better choice of model organisms in evo-devo
10. Biologists produce global map of plant biodiversity
11. Biologists prove critical step in membrane fusion
Post Your Comments:
*Name:
*Comment:
*Email:


(Date:2/1/2016)... , Feb. 1, 2016  Today, the first day ... announced plans to develop a first of its kind ... of IBM Watson. In the first application of ... (NYSE: IBM ), and Welltok will create a ... assessments with cognitive analytics, delivered on Welltok,s health optimization ...
(Date:1/25/2016)... 2016   Unisys Corporation (NYSE: UIS ) today ... (JFK) International Airport, New York City , to ... attempting to enter the United States using ... pilot testing of the system at Dulles last year. ... JFK during January 2016. --> pilot testing of ...
(Date:1/21/2016)... , January 21, 2016 ... a new market research report "Emotion Detection and Recognition ... Software Tools (Facial Expression, Voice Recognition and Others), ... Global forecast to 2020", published by MarketsandMarkets, the ... to reach USD 22.65 Billion by 2020, at ...
Breaking Biology News(10 mins):
(Date:2/10/2016)... 2016  The Maryland House of Delegates and House ... University of Maryland School of Medicine Dean E. ... Maryland Medical System President and CEO Robert Chrencik ... highest honor given to the public by the leader ... Reece and Mr. Chrencik for their contributions to ...
(Date:2/10/2016)... New York, New York (PRWEB) , ... ... ... Regeneron Pharmaceuticals Inc. (NASDAQ: REGN) today announced that it has joined the ... vaccines and immunotherapies for infectious diseases and cancer. , The Human ...
(Date:2/10/2016)... , Feb. 10, 2016  Matchbook, Inc., ... for fast growing biotech companies, announced today the ... Procurement Strategic Advisor. Jim brings nearly 25 years ... and procurement, having spent nearly two decades in ... Chain/Logistics and Procurement at Genzyme and, most recently ...
(Date:2/10/2016)... ... February 10, 2016 , ... LATHAM, NEW YORK... Marktech Optoelectronics ... West conference in San Francisco’s Moscone Center from February 16-18, 2016, and at ... , These latest InGaAs PIN diode standard packages feature a TO-46 metal can with ...
Breaking Biology Technology: