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 March 5, 2015 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 March 5, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Thursday, March 5, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Bupa Eyes India Healthcare Opportunities

Bupa Eyes India Healthcare Opportunities

Reuters - Business Video Online (Mar. 5, 2015) Bupa is hoping to expand in India&apos;s fast-growing health insurance market, once a rule change on foreign investment is implemented. The British private healthcare group&apos;s CEO tells Grace Pascoe why it&apos;s so keen on the new opportunity. Video provided by Reuters
Powered by NewsLook.com
Doctor in Your Pocket Is Getting Smarter

Doctor in Your Pocket Is Getting Smarter

Reuters - Business Video Online (Mar. 5, 2015) Mobile apps are turning smartphones into a personal doctors, with users able to measure heart rate, blood pressure and even blood sugar. But will it change our behaviour? Ivor Bennett reports from the Mobile World Congress in Barcelona. Video provided by Reuters
Powered by NewsLook.com
AbbVie Inks $21B Deal To Buy Cancer Drugmaker Pharmacyclics

AbbVie Inks $21B Deal To Buy Cancer Drugmaker Pharmacyclics

Newsy (Mar. 5, 2015) AbbVie announced Wednesday it will buy cancer drugmaker Pharmacyclics in a $21 billion deal. Video provided by Newsy
Powered by NewsLook.com
Toddlers Drinking Coffee? Why You Shouldn't Share Your Joe

Toddlers Drinking Coffee? Why You Shouldn't Share Your Joe

Newsy (Mar. 5, 2015) A survey of Boston mothers and toddlers found that 15 percent of two-year-olds drink coffee and 2.5 percent of 1-year-olds. Video provided by Newsy
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