Navigation Links
Protein amplification in melanoma is possible drug target

A newly discovered gene mutation may account for many cases of immune deficiency, in particular two syndromes known as immunoglobulin A (IgA) deficiency and Common Variable Immunodeficiency (CVID), report researchers in the July issue of Nature Genetics. The discovery may lead to a new diagnostic test for these conditions, which make people highly susceptible to infections and often go unrecognized because of a lack of good tests.

IgA deficiency affects 1 in 600 people; CVID is less common but more severe. Children and adults with either condition suffer relentlessly recurring ear infections, sinus infections, bronchitis, pneumonias and gastrointestinal infections. IgA deficiency and CVID can occur in the same family, and also predispose people to autoimmunity, particularly affecting the thyroid gland and resulting in thyroid hormone insufficiency. Finally, people with CVID are susceptible to B-cell lymphomas.

The researchers, led by Raif Geha, MD, and Emanuela Castigli, PhD, in the Division of Immunology at Children's Hospital Boston, found mutations in a gene known as TACI in 4 of 19 unrelated patients with CVID and in 1 of 16 unrelated patients with IgA deficiency. None of 50 healthy people tested had a TACI mutation. Four of the 5 patients with TACI mutations were studied further, and all 4 had relatives with the same mutations. Eleven of the 12 identified relatives with TACI or IgA deficiency reported a history of recurrent infections and were found to have low levels of immunoglobulin A (IgA), immunoglobulin G (IgG) or both.

TACI mutations interfere with two aspects of the immune response that involve maturation of B cells, the white blood cells that make immunoglobulins, which function as antibodies, to fight infections. Normally, TACI triggers B cells to switch from making immunoglobulin M (IgM), an antibody produced early in the body's immune response, to making other immunoglobulins like IgA and IgG. More important, TACI signals B ce lls to produce antibodies with a high affinity for specific attackers. Because TACI mutations are dominant, people with even one copy of the mutation will be unable to mount a strong antibody response.

"A test for TACI would allow for diagnosis of more children and their relatives," says Geha, senior author of the study and a professor of pediatrics at Harvard Medical School. "Many children who are sick are now missed, because they can have normal IgA and IgG levels, yet they still have poor antibody responses and get the same bacteria and viruses again and again."

The gene discovery will immediately not change therapy, Geha adds. "For the time being, it's prophylactic antibiotics or IV immunoglobulin infusions every three weeks," he says.

Geha's team previously demonstrated that TACI binds to two other proteins made by cells in the respiratory and gastrointestinal lining, known as APRIL and BAFF, to trigger the signal for B cells to mature. Geha believes that additional cases of immune deficiency result from mutations in the APRIL and BAFF genes, and plans to verify this in further studies.


'"/>

Source:


Related biology news :

1. Quantum Dots Research Leads to New Knowledge about Protein Binding in Plants
2. Protein discovery could unlock the secret to better TB treatment
3. Researchers Uncover Key Step In Manufacture of Memory Protein
4. An HIV Protein Plays a Surprising Role in Gene Activation
5. Protein Packages Found To Activate Genes; May Be What Regulates Development And Disease
6. New SARS Protein Linked To Important Cell Doorway
7. The Shapes Of Life: NIGMS Project Yields More Than 1,000 Protein Structures
8. PANTHER Protein Classification System Database 5.0
9. Duke Chemists Isolating Individual Molecules Of Toxic Protein In Alzheimers, Parkinsons Disease
10. Newly Discovered Compound Blocks Known Cancer-Causing Protein
11. UF Researchers Map Bacterial Proteins That Cause Tooth Loss
Post Your Comments:
*Name:
*Comment:
*Email:


(Date:4/15/2016)... 2016 Research and Markets has ... Market 2016-2020,"  report to their offering.  , ... ,The global gait biometrics market is expected to ... period 2016-2020. Gait analysis generates multiple ... used to compute factors that are not or ...
(Date:3/29/2016)... Florida , March 29, 2016 ... the "Company") LegacyXChange "LEGX" and SelectaDNA/CSI Protect are pleased ... in ink used in a variety of writing instruments, ... Buyers of originally created collectibles from athletes on LegacyXChange ... forensic analysis of the DNA. Bill ...
(Date:3/18/2016)... , March 18, 2016 ... Suppliers of Biometrics, ICT, Manned & Unmanned Vehicles, Physical infrastructure ... & security companies in the border security market and the ... and Europe has led visiongain ... companies improved success. --> defence & security ...
Breaking Biology News(10 mins):
(Date:5/3/2016)... ... May 03, 2016 , ... ... skill-building and compliance training platform on mobile devices, today released a new interactive ... Requirements for Medical Devices. The course is essential for owners or operators of ...
(Date:5/3/2016)... ... May 03, 2016 , ... Flagship Biosciences, the leader ... to its Board of Directors. Dr. Gillett recently retired from Charles River Laboratories ... and Chief Scientific Officer. A board-certified veterinary pathologist, Dr. Gillett joined Charles River ...
(Date:5/3/2016)... LONDON , May 3, 2016 ... Report Assessing Developers and Producers of Those Competitor Biologics  ... Guide to Companies, Activities and Prospects ,  ... drug companies? And what are their sales potentials? ... There you see results, trends, opportunities and revenue forecasting. ...
(Date:5/3/2016)... , ... May 03, 2016 , ... ... fertility clinics and IVF laboratories. A contingency of reproductive endocrinologists, including Dr. ... and women experiencing infertility and to help them build families. , Ovation Fertility ...
Breaking Biology Technology: