Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:


Genetic aberration helps explain variation in cystic fibrosis


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:

More articles from Health and Medicine:

nachricht NIH scientists describe potential antibody treatment for multidrug-resistant K. pneumoniae
14.03.2018 | NIH/National Institute of Allergy and Infectious Diseases

nachricht Researchers identify key step in viral replication
13.03.2018 | University of Pittsburgh Schools of the Health 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: Locomotion control with photopigments

Researchers from Göttingen University discover additional function of opsins

Animal photoreceptors capture light with photopigments. Researchers from the University of Göttingen have now discovered that these photopigments fulfill an...

Im Focus: Surveying the Arctic: Tracking down carbon particles

Researchers embark on aerial campaign over Northeast Greenland

On 15 March, the AWI research aeroplane Polar 5 will depart for Greenland. Concentrating on the furthest northeast region of the island, an international team...

Im Focus: Unique Insights into the Antarctic Ice Shelf System

Data collected on ocean-ice interactions in the little-researched regions of the far south

The world’s second-largest ice shelf was the destination for a Polarstern expedition that ended in Punta Arenas, Chile on 14th March 2018. Oceanographers from...

Im Focus: ILA 2018: Laser alternative to hexavalent chromium coating

At the 2018 ILA Berlin Air Show from April 25–29, the Fraunhofer Institute for Laser Technology ILT is showcasing extreme high-speed Laser Material Deposition (EHLA): A video documents how for metal components that are highly loaded, EHLA has already proved itself as an alternative to hard chrome plating, which is now allowed only under special conditions.

When the EU restricted the use of hexavalent chromium compounds to special applications requiring authorization, the move prompted a rethink in the surface...

Im Focus: Radar for navigation support from autonomous flying drones

At the ILA Berlin, hall 4, booth 202, Fraunhofer FHR will present two radar sensors for navigation support of drones. The sensors are valuable components in the implementation of autonomous flying drones: they function as obstacle detectors to prevent collisions. Radar sensors also operate reliably in restricted visibility, e.g. in foggy or dusty conditions. Due to their ability to measure distances with high precision, the radar sensors can also be used as altimeters when other sources of information such as barometers or GPS are not available or cannot operate optimally.

Drones play an increasingly important role in the area of logistics and services. Well-known logistic companies place great hope in these compact, aerial...

All Focus news of the innovation-report >>>



Industry & Economy
Event News

Ultrafast Wireless and Chip Design at the DATE Conference in Dresden

16.03.2018 | Event News

International Tinnitus Conference of the Tinnitus Research Initiative in Regensburg

13.03.2018 | Event News

International Virtual Reality Conference “IEEE VR 2018” comes to Reutlingen, Germany

08.03.2018 | Event News

Latest News

Wandering greenhouse gas

16.03.2018 | Earth Sciences

'Frequency combs' ID chemicals within the mid-infrared spectral region

16.03.2018 | Physics and Astronomy

Biologists unravel another mystery of what makes DNA go 'loopy'

16.03.2018 | Life Sciences

Science & Research
Overview of more VideoLinks >>>