Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Genetic aberration helps explain variation in cystic fibrosis

10.11.2003


At the annual meeting of the Americal Society for Human Genetics in Los Angeles, Hopkins researchers will reveal the existence of specific short repeats of particular genetic building blocks in the gene at the root of cystic fibrosis, an inherited and often fatal lung disease. The researchers will also show how the repetitious pattern may help predict the disease’s severity.



Cystic fibrosis, or CF, stems from mutations in a gene called CFTR, short for cystic fibrosis transmembrane conductance regulator. When specific mutations appear in both copies of the gene, a sticky mucus builds up in the lungs, making breathing difficult and trapping bacteria that can cause serious and deadly infections.

One CFTR mutation, known as 5T, doesn’t always cause CF even when 5T and one of the traditional CF-causing mutations are present, a person can be disease-free. However, there’s no good way to predict whether the 5T combo will lead to disease or whether the person will be perfectly healthy.


In a presentation Thursday, Nov. 6, at 2 p.m., graduate student Tim Hefferon is scheduled to report that repeats of two sets of genetic building blocks thymine (T) by itself or a thymine-guanine (TG) combination appear in the CFTR gene in certain combinations that affect disease status. The TG repeat is typically 9 to 13 sets long, followed by a set of 5, 7 or 9 Ts, but some combinations are more likely than others. In particular, scientists have only observed combinations of T and TG repeats that add up to 27 to 31 building blocks. In theory, combinations could be as short as 23 and as long as 35 building blocks.

In an 8 a.m. presentation on Saturday, Nov. 8, graduate student Josh Groman is scheduled to report that the presence of a TG repeat in CFTR that is 12 or 13 sets long is much more common in people who have 5T and a CF-causing mutation and lung disease than those who have the mutations but are healthy. The researchers conclude that establishing the length of this TG repeat may help predict disease severity in people with 5T and another CFTR mutation. Roughly 10 percent of the general population has the 5T mutation, but the vast majority of those do not also have a traditional CF-causing mutation.

The principal investigator of these studies, Garry Cutting, Ph.D., professor of pediatrics and medicine at Johns Hopkins, directs Hopkins’ DNA Diagnostic Laboratory as well as the Cystic Fibrosis Foundation Genotyping Center at Johns Hopkins.

Joanna Downer | EurekAlert!
Further information:
http://www.hopkinsmedicine.org/
http://www.ashg.org

More articles from Health and Medicine:

nachricht Electrical 'switch' in brain's capillary network monitors activity and controls blood flow
27.03.2017 | Larner College of Medicine at the University of Vermont

nachricht Laser activated gold pyramids could deliver drugs, DNA into cells without harm
24.03.2017 | Harvard John A. Paulson School of Engineering and Applied Sciences

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Giant Magnetic Fields in the Universe

Astronomers from Bonn and Tautenburg in Thuringia (Germany) used the 100-m radio telescope at Effelsberg to observe several galaxy clusters. At the edges of these large accumulations of dark matter, stellar systems (galaxies), hot gas, and charged particles, they found magnetic fields that are exceptionally ordered over distances of many million light years. This makes them the most extended magnetic fields in the universe known so far.

The results will be published on March 22 in the journal „Astronomy & Astrophysics“.

Galaxy clusters are the largest gravitationally bound structures in the universe. With a typical extent of about 10 million light years, i.e. 100 times the...

Im Focus: Tracing down linear ubiquitination

Researchers at the Goethe University Frankfurt, together with partners from the University of Tübingen in Germany and Queen Mary University as well as Francis Crick Institute from London (UK) have developed a novel technology to decipher the secret ubiquitin code.

Ubiquitin is a small protein that can be linked to other cellular proteins, thereby controlling and modulating their functions. The attachment occurs in many...

Im Focus: Perovskite edges can be tuned for optoelectronic performance

Layered 2D material improves efficiency for solar cells and LEDs

In the eternal search for next generation high-efficiency solar cells and LEDs, scientists at Los Alamos National Laboratory and their partners are creating...

Im Focus: Polymer-coated silicon nanosheets as alternative to graphene: A perfect team for nanoelectronics

Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are less stable. Now researchers at the Technical University of Munich (TUM) have, for the first time ever, produced a composite material combining silicon nanosheets and a polymer that is both UV-resistant and easy to process. This brings the scientists a significant step closer to industrial applications like flexible displays and photosensors.

Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are...

Im Focus: Researchers Imitate Molecular Crowding in Cells

Enzymes behave differently in a test tube compared with the molecular scrum of a living cell. Chemists from the University of Basel have now been able to simulate these confined natural conditions in artificial vesicles for the first time. As reported in the academic journal Small, the results are offering better insight into the development of nanoreactors and artificial organelles.

Enzymes behave differently in a test tube compared with the molecular scrum of a living cell. Chemists from the University of Basel have now been able to...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

International Land Use Symposium ILUS 2017: Call for Abstracts and Registration open

20.03.2017 | Event News

CONNECT 2017: International congress on connective tissue

14.03.2017 | Event News

ICTM Conference: Turbine Construction between Big Data and Additive Manufacturing

07.03.2017 | Event News

 
Latest News

Northern oceans pumped CO2 into the atmosphere

27.03.2017 | Earth Sciences

Fingerprint' technique spots frog populations at risk from pollution

27.03.2017 | Life Sciences

Big data approach to predict protein structure

27.03.2017 | Life Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>