Featured Research

from universities, journals, and other organizations

Gene Therapy Involving Antibiotics May Help Patients With Usher Syndrome

Date:
June 8, 2008
Source:
European Society of Human Genetics
Summary:
A new approach to treating vision loss caused by Type 1 Usher syndrome (USH1), the most common condition affecting both sight and hearing, has been developed. Preliminary results using a class of drugs called aminoglycosides, commonly used as antibiotics, had had promising effects in vitro and in cell culture.

A new approach to treating vision loss caused by Type 1 Usher syndrome (USH1), the most common condition affecting both sight and hearing, will be unveiled by a scientist at the annual conference of the European Society of Human Genetics June 3, 2008. Ms Annie Rebibo Sabbah, from the Genetics Department of the Rappaport Faculty of Medicine, Technion, Haifa, Israel, will tell the conference that preliminary results using a class of drugs called aminoglycosides, commonly used as antibiotics, had had promising effects in vitro and in cell culture.

Related Articles


Usher syndrome is a recessively- inherited disease; in order to have it, the child must receive a mutated form of the Usher gene from each parent. Approximately 3 to 6 percent of all children who are deaf and another 3 to 6 percent of children who are hard-of-hearing have it. In developed countries, about four babies in every 100,000 births have Usher syndrome. Children born with USH1 begin to develop visual problems in early childhood, and these develop quickly into an eye disorder called retinitis pigmentosa, which leads to complete blindness.

"There are several types of genetic mutations involved in Usher syndrome, including nonsense mutations. In this type of mutations the protein in the cell is totally absent, or abnormally short", says Ms Rebibo Sabbah. "We knew that aminoglycosides are able to suppress nonsense mutations to the extent that, instead of having no protein at all, or a truncated protein, the cell receives a partial amount of full-length protein that may even be functional."

As a model, the team took several nonsense mutations of the PCDH15 gene, which is responsible for Usher syndrome. They were able to produce partial suppression of the mutations in vitro using commercial aminoglycosides. The same result was achieved ex vivo, in cultured cells.

"Despite these promising results, the most serious problem with aminoglycosides is their toxicity to the kidney and to the inner ear, which causes limitation in their use", says Ms Rebibo Sabbah. "We worked with Professor Baasov, from the Chemistry Faculty at Technion, to try to develop a new compound based on aminoglycosides which will have reduced toxicity."

The scientists tested more than forty new compounds for ones which had the same efficacy as aminoglycosides, but with significantly reduced toxicity. "We found a very promising new compound, called NB30", says Ms Rebibo Sabbah. "After testing its toxicity in cells, we tried it in mice. In both models the toxicity was significantly reduced compared to the current commercially available aminoglycosides, and we could also see the suppressive activity of NB30 in the cultured cells."

This is the first time that this therapeutic strategy has been tried in Usher syndrome, the scientists say. Their next step will be to look at another USH1- related gene (CDH23) and its nonsense mutations in both humans and mice.

"Our final aim is to prove that a nonsense mutation underlying Usher syndrome is capable of being suppressed in vivo in a mouse model by commercial aminoglycosides, and also by NB30, and that this will have a positive effect on retinal function", says Ms Rebibo Sabbah. "We will also continue to look for new compounds with improved characteristics."

The researchers hope that their work will lead to therapy to delay the progression and, indeed, the onset, of vision loss in patients with USH1. "Because it is recessively inherited, this is a particularly invidious disease", says Ms Rebibo Sabbah.

"In most cases, parents have normal hearing and vision and are not aware that they are carriers of Usher syndrome. But if they have a child with another carrier, they will have a one in four chance of having a child with the condition at each birth. We need urgently to find an effective treatment."


Story Source:

The above story is based on materials provided by European Society of Human Genetics. Note: Materials may be edited for content and length.


Cite This Page:

European Society of Human Genetics. "Gene Therapy Involving Antibiotics May Help Patients With Usher Syndrome." ScienceDaily. ScienceDaily, 8 June 2008. <www.sciencedaily.com/releases/2008/06/080602214121.htm>.
European Society of Human Genetics. (2008, June 8). Gene Therapy Involving Antibiotics May Help Patients With Usher Syndrome. ScienceDaily. Retrieved March 3, 2015 from www.sciencedaily.com/releases/2008/06/080602214121.htm
European Society of Human Genetics. "Gene Therapy Involving Antibiotics May Help Patients With Usher Syndrome." ScienceDaily. www.sciencedaily.com/releases/2008/06/080602214121.htm (accessed March 3, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Tuesday, March 3, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Treadmill Test Can Predict Chance Of Death Within A Decade

Treadmill Test Can Predict Chance Of Death Within A Decade

Newsy (Mar. 2, 2015) Johns Hopkins researchers analyzed 58,000 heart stress tests to come up with a formula that predicts a person&apos;s chances of dying in the next decade. Video provided by Newsy
Powered by NewsLook.com
Going Gluten-Free Could Get You A Tax Break

Going Gluten-Free Could Get You A Tax Break

Newsy (Mar. 2, 2015) If a doctor advises you to remove gluten from your diet, you could get a tax deduction on the amount you spend on gluten-free foods. Video provided by Newsy
Powered by NewsLook.com
GlaxoSmithKline and Novartis Try Swapping Success

GlaxoSmithKline and Novartis Try Swapping Success

Reuters - Business Video Online (Mar. 2, 2015) GlaxoSmithKline and Novartis have completed a series of asset swaps worth more than $20 billion. As Grace Pascoe reports they say the deal will reshape both drugmakers. Video provided by Reuters
Powered by NewsLook.com
How Can West Africa Rebuild After Ebola?

How Can West Africa Rebuild After Ebola?

Reuters - Business Video Online (Mar. 2, 2015) How best to rebuild the three West African countries struggling with Ebola will be discussed in Brussels this week. As Hayley Platt reports Sierra Leone has the toughest job ahead - its once thriving economy has been ravaged by the disease. Video provided by Reuters
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins