Navigation Links
Treatment approach to human Usher syndrome: Small molecules ignore stop signals
Date:7/1/2011

signal in the mutated USH1C gene to be ignored, thus resulting in continuing protein synthesis and the formation of the functional genetic product in cell and organ cultures. In addition to its ability to cause readthrough of stop signals, the active agent PTC124 has also been demonstrated to be highly compatible with murine and human retina cultures. Moreover, the team managed for the first time to demonstrate readthrough of an eye mutation codon in vivo.

"PTC124 is already being tested in clinical trials for its efficacy in treating other diseases involving nonsense mutations, such as cystic fibrosis and Duchenne muscular dystrophy. We therefore hope that this treatment approach will soon be ready for use in Usher syndrome patients," explains Dr Kerstin Nagel-Wolfrum.

Currently putting the finishing touches on his doctoral thesis, Tobias Goldmann is comparing the efficiency of the readthrough rate and the biocompatibility of other molecules that induce the readthrough of nonsense mutations. The focus is particularly on modified aminoglycosides, i.e. derivatives of commercially available and clinically tested antibiotics. These are being designed and synthesized by an Israeli cooperation partner, Professor Timor Bassov of the Haifa Technicon, and have already been successfully used by researchers in Mainz for readthrough of nonsense mutations in Usher genes. In addition to conducting further preclinical studies of the ocular applications of these new substances, the Usher laboratory in Mainz is planning to use this new method of treating this specific form of Usher syndrome in hospital patients as soon as possible.

The translational biomedical research on readthrough of nonsense mutations aimed at developing a treatment for Usher syndrome is being funded by the FAUN foundation and the "Syscilia" project of the Seventh Framework Program of the European Union. It is part of the Research Training Group 1044 "Developmental and Disease-Ind
'/>"/>

Contact: Dr. Kerstin Nagel-Wolfrum
nagelwol@uni-mainz.de
49-613-139-20131
Johannes Gutenberg Universitaet Mainz
Source:Eurekalert

0

GOOD

Page: 1 2 3

Related biology news :

1. IOF calls for improved strategies to close the treatment gap and reduce future burden of fractures
2. Scripps Research scientists awarded $2.2 million to develop treatment for multi-drug addiction
3. Potential treatment for deadly E. coli disease
4. Research reveals effectiveness of seizure treatments for children with autism
5. Therapies to improve biochemical functions hold promise as treatments for autism
6. Cancer drug holds promise as first treatment for common, inherited dementia
7. Arthritis patients taking newer treatments do not have an overall increased cancer risk
8. Undertreatment of cardiovascular disease in rheumatoid arthritis patients following a heart attack
9. Several abstracts on gout reveal true burden of disease and highlight promising new treatments
10. Targeted adalimumab treatment can optimize long-term outcomes for patients with early RA
11. Recycling of Alzheimers proteins could be key to new treatments
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/22/2013)... for prostate cancer could become as easy for men ... UC Irvine research published today in the Journal ... than a decade of work, UC Irvine chemists have ... for prostate cancer in urine, meaning that the disease ... at dramatically lower cost. The same technology could potentially ...
(Date:5/21/2013)... NC Biologists have known for a long time ... why isn,t well understood, particularly for plants. But it ... Lanfear of Australian National University and the U. S. ... to be published 21 May in the journal ... plants have faster-changing genomes. , Drawing from a database ...
(Date:5/21/2013)... Wash. A new analysis shows that the nation,s ... of enough algae to produce up to 25 billion ... States, one-twelfth of the country,s yearly needs. , The ... resources that would be needed to grow significant amounts ... results were published in the May 7 issue of ...
Breaking Biology News(10 mins):UCI chemists devise inexpensive, accurate way to detect prostate cancer 2UCI chemists devise inexpensive, accurate way to detect prostate cancer 3Small but speedy: Short plants live in the evolutionary fast lane 2Going green: Nation equipped to grow serious amounts of pond scum for fuel 2Going green: Nation equipped to grow serious amounts of pond scum for fuel 3Going green: Nation equipped to grow serious amounts of pond scum for fuel 4
... discovered that roots of a plant used a century ago ... effects in laboratory experiments in killing the H1N1 swine flu ... pleasant onion-like taste when cooked, but when raw it has ... the Devil" plant. Their report is scheduled for the Sept. ...
... if your child had a fever or be certain ... you would, of course, use a thermometer that you ... its range. However, it isn,t that simple for researchers ... devices used in medical diagnostics, DNA forensics and "lab-on-a-chip" ...
... The latest data from groundbreaking human clinical trials of ... primary determinant of improvements in achieving better diabetes control is ... more rather than the age of patients, and that ... 1 diabetes begin using the devices including experiencing fewer ...
Cached Biology News:NIST calculations may improve temperature measures for microfluidics 2JDRF-funded studies show regular CGM use increases diabetes control for all age groups 2JDRF-funded studies show regular CGM use increases diabetes control for all age groups 3JDRF-funded studies show regular CGM use increases diabetes control for all age groups 4JDRF-funded studies show regular CGM use increases diabetes control for all age groups 5
(Date:5/23/2013)... The New Jersey chapter of the largest organization ... (BDPA), is hosting its 10th annual Families in Technology ... will encourage students and their parents to explore the ... many of the industries’ finest teachers. Held from 9 ... of Technology, the event will include workshops, instruction and ...
(Date:5/23/2013)... May 23, 2013 During the ... critical to adhere to principles of good clinical ... Esteemed speaker Dr. Jeremy Lim, Fellow, Clinical Development ... ,     Understand the International Conference on ... and additional regulations for the conduction of clinical ...
(Date:5/23/2013)... Washington, DC (PRWEB) May 23, 2013 ... of genetics-based ancestry tracing for people of African ... myDNAmix Admixture product offering. For people of all ... genetic make-up from five distinct populations: Indigenous Americas ... Europe and India Subcontinent. , Originally ...
(Date:5/23/2013)... St. Louis, Missouri (PRWEB) May 23, 2013 ... design and manufacture of complete thermal systems, recently ... more than 90 years of experience in designing ... most complete selection of products to serve diverse ... lead-time options is featured at the beginning of ...
Breaking Biology Technology:Black Data Processing Associates (BDPA) New Jersey Hosts 10th Annual Families in Technology Day June 8, 2013 2Adhering to Good Clinical Practice, New Webinar Hosted by Xtalks 2AfricanAncestry.com Rolls Out Improved MyDNAMix Admixture Test for People of all Races; Enhancements Increase Accuracy in Estimation of Ancestral Makeup 2AfricanAncestry.com Rolls Out Improved MyDNAMix Admixture Test for People of all Races; Enhancements Increase Accuracy in Estimation of Ancestral Makeup 3Watlow Introduces Its New Industrial Heater Catalog 2
... world is a very different place out beyond the horizon. ... large cargo ships plying the worlds waterways and oceans, not ... out of ports, loading, unloading, changing out crews and cargos, ... , , In what can be a very murky world ...
... differences among countries. This is what medical researchers ... from biobanks in their research. For one thing, ... international studies. In the latest issue of Nature ... (CBE), together with leading biobank researchers, put forward a ...
... interest in the health-associated properties of probiotics, also ... the food needed for the growth of probiotic ... have discovered a natural fruit-based extract that dramatically ... bacteria such as the lactic acid bacteria, which ...
Cached Biology Technology:Out beyond the horizon 2Out beyond the horizon 3Long-awaited international ethical guidelines for biobank researchers 2University of Leicester scientists discover technique to help 'friendly bacteria' 2
... fermentation systems for cultivation of microorganisms and ... of bio-pharmaceutical products maximum performance and economy ... and cell fermentation 10 L 1,500 ... ,*Fully automated control system ,*High-quality ...
tracking dye in electrophoresis; free acid, C 19 H 10 BrO 5 S; MW: 669.96...
... Magnetofection technology, SilenceMag is the most ... rapid and easy to use, SilenceMag ... Specifically designed for siRNA delivery, SilenceMag ... low doses of siRNA.,SilenceMag formulation gives ...
... technology, SilenceMag is the most efficient ... and easy to use, SilenceMag is ... designed for siRNA delivery, SilenceMag allows ... doses of siRNA.,SilenceMag formulation gives reliable ...
Biology Products: