Featured Research

from universities, journals, and other organizations

Wake Forest Scientists Clone Gene For Inherited Kidney Stone Disease

Date:
October 19, 1999
Source:
Wake Forest University Baptist Medical Center
Summary:
Scientists at Wake Forest University School of Medicine report that they have cloned the gene responsible for an inherited form of kidney stone disease, which may open the way to new treatments.

WINSTON-SALEM, N.C. -- Scientists at Wake Forest University School of Medicine report that they have cloned the gene responsible for an inherited form of kidney stone disease, which may open the way to new treatments.

Related Articles


The disease, called primary hyperoxaluria type II, "often results in the formation of kidney stones at a very young age," said Ross P. Holmes, Ph.D., associate professor of surgical sciences (urology), one of the authors of the study, published in the current issue of Human Molecular Genetics.

"In severe forms of the disease, kidney failure may occur, and other organs may fail, leading to early death," he said.

Scott D. Cramer, Ph.D.,assistant professor of cancer biology and surgical sciences (urology) and lead author, said patients with the disease have an alternate or mutated form of the gene, which ordinarily directs creation of a critical enzyme.

In these patients, the absence of the enzyme results in too much oxalic acid or oxalates, which in turn leads to formation of calcium oxalate stones, the most common form of kidney stones.

Cramer and Holmes said, "The discovery of this gene may lead to a better understanding of the way that oxalate is synthesized in the body." That in turn may benefit not only patients with this disease, but also people with calcium oxalate kidney stones from other causes.

Primary hyperoxaluria type II ordinarily is detected because of excessive oxalate in the urine. The missing enzyme is hydroxypyruvate reducatase, and it is the body's primary process for breaking down the oxalates.

With the discovery of the gene, Cramer and Holmes expect to develop an animal model for kidney stone disease. They plan to create a group of mice that are lacking a functioning gene, so they will be missing the hydroxypyruvate reductase enzyme.

Cramer said, "We will use the mice as a model to test new therapeutic treatments not only for this disease, but calcium oxalate stones in general." Holmes said white men have the highest incidence of kidney stone disease, with 12-15 percent of the men in this group likely to have kidney stones sometime in their lifetimes. The peak in occurrence is in people during their 40s and 50s.

The research was funded by the National Institutes of Health and the Oxalosis and Hyperoxaluria Foundation.


Story Source:

The above story is based on materials provided by Wake Forest University Baptist Medical Center. Note: Materials may be edited for content and length.


Cite This Page:

Wake Forest University Baptist Medical Center. "Wake Forest Scientists Clone Gene For Inherited Kidney Stone Disease." ScienceDaily. ScienceDaily, 19 October 1999. <www.sciencedaily.com/releases/1999/10/991019075821.htm>.
Wake Forest University Baptist Medical Center. (1999, October 19). Wake Forest Scientists Clone Gene For Inherited Kidney Stone Disease. ScienceDaily. Retrieved November 21, 2014 from www.sciencedaily.com/releases/1999/10/991019075821.htm
Wake Forest University Baptist Medical Center. "Wake Forest Scientists Clone Gene For Inherited Kidney Stone Disease." ScienceDaily. www.sciencedaily.com/releases/1999/10/991019075821.htm (accessed November 21, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Friday, November 21, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Milestone Birthdays Can Bring Existential Crisis, Study Says

Milestone Birthdays Can Bring Existential Crisis, Study Says

Newsy (Nov. 21, 2014) Researchers find that as people approach new decades in their lives they make bigger life decisions. Video provided by Newsy
Powered by NewsLook.com
Ebola: Life Without School in Guinea

Ebola: Life Without School in Guinea

AFP (Nov. 21, 2014) Following the closure of schools and universities in Guinea because of the Ebola virus, students look for temporary work or gather in makeshift classrooms to catch up on their syllabus. Duration: 02:14 Video provided by AFP
Powered by NewsLook.com
UN Says It Will Scale Up Its Ebola Response

UN Says It Will Scale Up Its Ebola Response

AFP (Nov. 20, 2014) UN Resident Coordinator David McLachlan-Karr and WHO representative in the country Daniel Kertesz updated the media on the UN Ebola response on Wednesday. Duration: 00:51 Video provided by AFP
Powered by NewsLook.com
Takata Offers "sincerest Condolences" To Victims of Malfunctioning Airbag

Takata Offers "sincerest Condolences" To Victims of Malfunctioning Airbag

Reuters - US Online Video (Nov. 20, 2014) U.S. Congress hears from a victim and company officials as it holds a hearing on the safety of Takata airbags after reports of injuries. Rough Cut (no reporter narration). 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