Navigation Links
Aggregating instead of stabilizing: New insights into the mechanisms of heart disease
Date:5/23/2012

Malformed desmin proteins aggregate with intact proteins of the same kind, thereby triggering skeletal and cardiac muscle diseases, the desminopathies. This was discovered by researchers from the RUB Heart and Diabetes Center NRW in Bad Oeynhausen led by PD Dr. Hendrik Milting in an interdisciplinary research project with colleagues from the universities in Karlsruhe, Wrzburg and Bielefeld. They report in the Journal of Biological Chemistry.

One defective gene is enough

Desmin normally forms stabilizing filaments inside of the cells. Different mutations in the DES gene, which contains the blueprint for the protein, induce different muscle diseases. Since chromosomes are always present in pairs, each cell has two DES genes on two different chromosomes. The desminopathies break out even if only one of the DES genes is mutated. With Photo Activation Localization Microscopy (PALM), the interdisciplinary team led by Dr. Milting revealed the mechanism behind this.

Making mutated and intact proteins visible

If one DES gene is mutated and one intact, a cell produces both malformed and normal proteins. Since not only the mutant desmin proteins clump together, but also the intact exemplars are incorporated into the aggregates, one defective DES gene is enough to trigger the disease. Using the PALM microscope, the researchers attach two different fluorescent molecules to the mutant and the intact proteins. They can turn these markers on and off by laser, effectively flashing them. From the "snapshots" of the intact and the mutated proteins, the computer then calculates a joint picture on which both protein variants can be seen. PALM is a novel microscopy technique that can achieve ten times higher resolution than conventional light microscopy.

Further research projects

In the next step, the research group would like to find out how mutations in the DES gene trigger what is termed arrhythmogenic right ventricular cardiomyopathy, ARVC for short. This rare heart muscle disease is characterized by a severe defect especially to the right ventricle and by heart rhythm problems that can lead to sudden cardiac death due to defects in the cell-cell contacts.


'/>"/>
Contact: PD Dr. Hendrik Milting
HMilting@hdz-nrw.de
49-573-197-3510
Ruhr-University Bochum
Source:Eurekalert

Related medicine news :

1. Neuropathy patients more likely to receive high-cost, screening instead of more effective tests
2. A Capsule Camera Instead of a Colonoscopy?
3. Many Kids Skipping Meals, Snacking Instead
4. Forget the Flowers for Mother's Day This Year -- Get Her a Massage Instead
5. Understanding and promoting mental health - Insights from psychological science
6. New insights into when beach sand may become unsafe for digging and other contact
7. From a Failed Vaccine, New Insights Into Fighting HIV
8. Tracking proteins behaving badly provides insights for treatments of brain diseases
9. New insights come from tracing cells that scar lungs
10. Sport tourism development book reveals new insights on growing leisure activity
11. Dolphins remarkable recovery from injury offers important insights for human healing
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:9/1/2020)... ... , ... As fall and winter swiftly approach and many businesses cut costs ... this time to expand and grow into a full-fledged natural health clinic over the ... be relaunching its brand new website, expanding its services menu and has recruited top-tier ...
(Date:8/31/2020)... ... August 31, 2020 , ... Cardiothoracic surgeons at Allegheny ... from Carnegie Mellon University (CMU) to develop a new heart monitoring device designed ... heart surgery. , The AGH/CMU team was recently awarded a “Trailblazer” grant from ...
(Date:8/31/2020)... ... August 31, 2020 , ... Just found out your dear friend has cancer? , It’s ... friend or family member shares their diagnosis. Once the shock wears off, the questions and ... thing? What are the best ways to help? Words are failing me. I’m scared. I ...
(Date:8/31/2020)... , ... August 31, 2020 , ... Want to get ... Cerebral Palsy Alliance Research Foundation (CPARF) is thrilled to launch its fourth annual STEPtember ... A fully virtual challenge, STEPtember meets everyone wherever they are at this moment — ...
(Date:8/31/2020)... ... 2020 , ... Colorado State University Global (CSU Global) – ... education – is proud to announce its new master’s degree in Military ... in the nation, the 60-credit hour program is designed to provide students with ...
Breaking Medicine News(10 mins):
(Date:8/26/2020)... ... August 26, 2020 , ... ScripHessco has announced the ... infographic breaks down ways that chiropractors can help heal sports injuries and get ... “Athletes have an unusual amount of pressure and stress on their bodies, so ...
(Date:8/26/2020)... ... August 26, 2020 , ... ... announced that it has entered into definitive agreement to acquire ProCE, a ... on pharmacists and pharmacy technicians. , CEA represents a growing alliance ...
(Date:8/26/2020)... ... August 26, 2020 , ... The Lymphoma ... innovative lymphoma research and serving the lymphoma community through education programs, outreach initiatives ... LRF Gala and Charity Auction on Wednesday, Sept. 30 . The ...
Breaking Medicine Technology: