Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Penn Researchers Discover Pathway that Eliminates Genetic Defects in Red Blood Cells

03.08.2007
Implications for Treating Common Genetic Blood Disorder
> Researchers at the University of Pennsylvania School of Medicine have discovered a unique molecular pathway that detects and selectively eliminates defective messenger RNAs from red blood cells.

> Knowing how this specific surveillance system works can help researchers better understand hereditary diseases, in this case, thalassemia, a form of anemia, which is the most common genetic disorder worldwide.

> The results appear in the most recent issue of Nature Structural and Molecular Biology.

Researchers at the University of Pennsylvania School of Medicine have discovered a unique molecular pathway that detects and selectively eliminates defective messenger RNAs from red blood cells. Other such pathways – known as surveillance pathways – operate in a more general way, in many cell types. Knowing how this specific surveillance system works can help researchers better understand hereditary diseases, in this case, thalassemia, a form of anemia, which is the most common genetic disorder worldwide.

... more about:
»Genetic »Mutation »RNA »blood flow »specific »surveillance

The results appear in the most recent issue of Nature Structural and Molecular Biology.

Cells have developed surveillance mechanisms that identify and destroy abnormal RNAs. Mistakes in a cell’s reading of RNA into protein can lead to the production of an abnormal protein, and this can result in abnormal cell function or death.

The form of thalassemia studied by the Penn group is caused by a mutation that allows the cell’s ribosome to read too far, making a protein that is too long. Thalassemias result from an underproduction of hemoglobin proteins – the oxygen carrying molecule in blood – hence the anemia. The particular mutation they study is carried by millions of people in Southeast Asia and is a major a cause of fetal loss and disease in adults. Specifically in this study they show how far the ribosome has to read into the RNA to trigger mRNA destabilization.

Several surveillance pathways have been identified over the last few years that recognize specific types of mutations in RNAs. For example, the most well-described pathway is one that recognizes nonsense mutations that result in an RNA that makes a protein that is too short. Duchenne's muscular dystrophy and cystic fibrosis are examples of hereditary diseases that result from nonsense mutations.

“We describe a surveillance pathway that targets RNA that is only found in red blood cells,” says senior author Stephen A. Liebhaber, MD, Professor of Genetics and Medicine. “More general surveillance pathways are in all cells. The specificity of this particular surveillance pathway has not been previously observed and predicts that there’s something quite unusual about how RNAs are handled in red blood cells. We’re interested in how this specific surveillance system works in red blood cells because such understanding will increase our knowledge of how these cells make high levels of hemoglobin and how defects in this system could contribute to genetic disorders and possibly be reversed.”

“This type of surveillance pathway that is regulated at the tissue level could also exist in other highly specialized cells,” says first author Jian Kong, PhD, Senior Research Investigator. “Investigating the mechanism of this pathway may help in understanding a wider range of genetic disorders.”

Liebhaber is looking forward to further analysis of this surveillance pathway in order to determine why it is specific to red cells and to define the corresponding steps in gene expression in the red cell that are so unusual. Such information should lead to new ideas on how to manipulate this system in a variety of blood diseases.

The research was funded by the National Heart, Lung, and Blood Disease Institute.

Karen Kreeger | EurekAlert!
Further information:
http://www.uphs.upenn.edu

Further reports about: Genetic Mutation RNA blood flow specific surveillance

More articles from Life Sciences:

nachricht Multi-institutional collaboration uncovers how molecular machines assemble
02.12.2016 | Salk Institute

nachricht Fertilized egg cells trigger and monitor loss of sperm’s epigenetic memory
02.12.2016 | IMBA - Institut für Molekulare Biotechnologie der Österreichischen Akademie der Wissenschaften GmbH

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Novel silicon etching technique crafts 3-D gradient refractive index micro-optics

A multi-institutional research collaboration has created a novel approach for fabricating three-dimensional micro-optics through the shape-defined formation of porous silicon (PSi), with broad impacts in integrated optoelectronics, imaging, and photovoltaics.

Working with colleagues at Stanford and The Dow Chemical Company, researchers at the University of Illinois at Urbana-Champaign fabricated 3-D birefringent...

Im Focus: Quantum Particles Form Droplets

In experiments with magnetic atoms conducted at extremely low temperatures, scientists have demonstrated a unique phase of matter: The atoms form a new type of quantum liquid or quantum droplet state. These so called quantum droplets may preserve their form in absence of external confinement because of quantum effects. The joint team of experimental physicists from Innsbruck and theoretical physicists from Hannover report on their findings in the journal Physical Review X.

“Our Quantum droplets are in the gas phase but they still drop like a rock,” explains experimental physicist Francesca Ferlaino when talking about the...

Im Focus: MADMAX: Max Planck Institute for Physics takes up axion research

The Max Planck Institute for Physics (MPP) is opening up a new research field. A workshop from November 21 - 22, 2016 will mark the start of activities for an innovative axion experiment. Axions are still only purely hypothetical particles. Their detection could solve two fundamental problems in particle physics: What dark matter consists of and why it has not yet been possible to directly observe a CP violation for the strong interaction.

The “MADMAX” project is the MPP’s commitment to axion research. Axions are so far only a theoretical prediction and are difficult to detect: on the one hand,...

Im Focus: Molecules change shape when wet

Broadband rotational spectroscopy unravels structural reshaping of isolated molecules in the gas phase to accommodate water

In two recent publications in the Journal of Chemical Physics and in the Journal of Physical Chemistry Letters, researchers around Melanie Schnell from the Max...

Im Focus: Fraunhofer ISE Develops Highly Compact, High Frequency DC/DC Converter for Aviation

The efficiency of power electronic systems is not solely dependent on electrical efficiency but also on weight, for example, in mobile systems. When the weight of relevant components and devices in airplanes, for instance, is reduced, fuel savings can be achieved and correspondingly greenhouse gas emissions decreased. New materials and components based on gallium nitride (GaN) can help to reduce weight and increase the efficiency. With these new materials, power electronic switches can be operated at higher switching frequency, resulting in higher power density and lower material costs.

Researchers at the Fraunhofer Institute for Solar Energy Systems ISE together with partners have investigated how these materials can be used to make power...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

ICTM Conference 2017: Production technology for turbomachine manufacturing of the future

16.11.2016 | Event News

Innovation Day Laser Technology – Laser Additive Manufacturing

01.11.2016 | Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

 
Latest News

UTSA study describes new minimally invasive device to treat cancer and other illnesses

02.12.2016 | Medical Engineering

Plasma-zapping process could yield trans fat-free soybean oil product

02.12.2016 | Agricultural and Forestry Science

What do Netflix, Google and planetary systems have in common?

02.12.2016 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>