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:5/29/2016)... (PRWEB) , ... May 29, 2016 , ... Whole Health ... jaw clipper that has been available via Amazon.com. This new style of nail ... nails. , The jaw opening is approximately 4mm and the actual handle is 2.5mm ...
(Date:5/28/2016)... ... 28, 2016 , ... May 26, 2016- In search of the K. Warriors, ... event of “K Warriors” on June 4, 2016 at Ashbury Hotel and Suites 600 ... sponsored and hosted by Shaolin Institute and sanctioned by KSF (Kungfu Sanda Federation), This ...
(Date:5/27/2016)... (PRWEB) , ... May 27, 2016 , ... Two director-level ... as YWCA Tribute to Women and Industry (TWIN) 2016 honorees. The award recognizes ... workplace. For this year, Geri Boone, Director of the MLTSS (Managed Long-Term Services and ...
(Date:5/27/2016)... ... May 27, 2016 , ... ... installment is bolstered by inspiring human-interest stories, courtesy of awareness-driven celebrities and thought ... industry, from leading advocates, associations and industry leaders such as Bioness. , ...
(Date:5/27/2016)... ... May 27, 2016 , ... Each year ... medicine. Allison Outerbridge is this year’s Life University winner of a ... the university’s Student Leadership Awards ceremony. , Outerbridge is approaching her last quarter ...
Breaking Medicine News(10 mins):
(Date:5/26/2016)... 26, 2016   Change Healthcare , ... network solutions and technology-enabled services designed to ... into a strategic channel partnership with SourceMed, ... solutions and revenue cycle management services that ... rehabilitation clinics to optimize revenue, operational efficiency ...
(Date:5/25/2016)... , May 25, 2016 According ... by Type (3D, 2D, 4D), by Therapeutic Area (Oncology, ... End User (Medical Device Manufacturers, Hospitals/ Clinics) - Forecast ... global Medical Animation Market for the forecast period of ... USD 301.3 Million by 2021 from USD 117.3 Million ...
(Date:5/25/2016)... May 25, 2016  Zymo Research Corp. announced ... new reference materials that help researchers obtain the ... to analyses. The rapid growth of the study ... to have standard methods to improve the reproducibility ... inherently exist at every step of the measurement ...
Breaking Medicine Technology: