Featured Research

from universities, journals, and other organizations

Mayo Clinic Researchers Identify Gene For Inherited Kidney And Liver Disease In Young Children

Date:
February 12, 2002
Source:
Mayo Clinic
Summary:
Researchers at Mayo Clinic have identified the gene causing an inherited form of childhood kidney disease associated with renal failure and neonatal death. The discovery may improve prospects for gene testing and diagnosis of this life-threatening disease.

ROCHESTER, MINN. - Researchers at Mayo Clinic have identified the gene causing an inherited form of childhood kidney disease associated with renal failure and neonatal death. The discovery may improve prospects for gene testing and diagnosis of this life-threatening disease.

Related Articles


The results of the Mayo Clinic study are published in the March issue of Nature Genetics.

Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common childhood diseases of the kidneys. ARPKD, also known as infantile PKD, affects one in 20,000 Americans. The disease results in the development of multiple fluid-filled cysts in the kidney, fibrosis in the liver and often poor lung development and neonatal death.

"Identifying the causative gene is a major step forward, as the progression of the disease can now be studied. It improves the prospects for gene-based diagnostics," says Peter C. Harris, Ph.D., Mayo Clinic nephrologist and the lead researcher in the study.

Improved respiratory treatment has increased newborn survival, but roughly 30 percent of affected babies still die in infancy. Renal disease is usually evident in the neonate. However, when ARPKD appears later in childhood, it is usually associated with less massive renal enlargement and more variability in cyst size. Approximately 50 percent of affected babies who survive the neonatal period progress to end-stage renal disease (ESRD) within 10 years. About 45 percent of infants with ARPKD also have liver disease, which is often a major feature in older children.

Two genes have been identified for the more common, dominant form of PKD. The genetic cause of the recessive type, inherited only when both parents carry an abnormal copy of the disease gene, was more difficult to isolate. In 1994, a German group narrowed the area of the disease gene to a region on chromosome 6. Dr. Harris and colleagues at Mayo Clinic were able to identify the gene by first finding a gene that causes a similar disease in rats. Dr. Harris’ group analyzed a rat with a similar form of PKD that arose in a breeding colony in Japan. Identifying the gene in the rat, and analyzing ARPKD patients, led the researchers to realize that the human equivalent of the rat gene was the one that was abnormal in this disease.

Progress on the Human Genome Project, which sequenced the candidate region on chromosome 6, aided identification of the gene. The gene is very large, covering almost 500,000 DNA bases (an average gene spans about 30,000 bases) and is predicted to encode a large new protein, termed fibrocystin. As yet the normal role of this protein is unknown, but identifying the basic defect in this disorder is a first step to understanding its pathogenesis.

This research was funded in part by the National Institute of Diabetes and Digestive and Kidney Diseases of the National Institutes of Health.


Story Source:

The above story is based on materials provided by Mayo Clinic. Note: Materials may be edited for content and length.


Cite This Page:

Mayo Clinic. "Mayo Clinic Researchers Identify Gene For Inherited Kidney And Liver Disease In Young Children." ScienceDaily. ScienceDaily, 12 February 2002. <www.sciencedaily.com/releases/2002/02/020205075712.htm>.
Mayo Clinic. (2002, February 12). Mayo Clinic Researchers Identify Gene For Inherited Kidney And Liver Disease In Young Children. ScienceDaily. Retrieved October 30, 2014 from www.sciencedaily.com/releases/2002/02/020205075712.htm
Mayo Clinic. "Mayo Clinic Researchers Identify Gene For Inherited Kidney And Liver Disease In Young Children." ScienceDaily. www.sciencedaily.com/releases/2002/02/020205075712.htm (accessed October 30, 2014).

Share This



More Health & Medicine News

Thursday, October 30, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Mind-Controlled Prosthetic Arm Restores Amputee Dexterity

Mind-Controlled Prosthetic Arm Restores Amputee Dexterity

Reuters - Innovations Video Online (Oct. 29, 2014) A Swedish amputee who became the first person to ever receive a brain controlled prosthetic arm is able to manipulate and handle delicate objects with an unprecedented level of dexterity. The device is connected directly to his bone, nerves and muscles, giving him the ability to control it with his thoughts. Matthew Stock reports. Video provided by Reuters
Powered by NewsLook.com
Google To Use Nanoparticles, Wearables To Detect Disease

Google To Use Nanoparticles, Wearables To Detect Disease

Newsy (Oct. 29, 2014) Google X wants to improve modern medicine with nanoparticles and a wearable device. It's all an attempt to tackle disease detection and prevention. Video provided by Newsy
Powered by NewsLook.com
Can Drinking Milk Lead To Early Death?

Can Drinking Milk Lead To Early Death?

Newsy (Oct. 29, 2014) Researchers in Sweden released a study showing heavy milk drinkers face an increased mortality risk from a variety of causes. Video provided by Newsy
Powered by NewsLook.com
Obama: The US Will Not 'run and Hide' From Ebola

Obama: The US Will Not 'run and Hide' From Ebola

AP (Oct. 29, 2014) Surrounded by health care workers in the White House East Room, President Barack Obama said the U.S. will likely see additional Ebola cases in the weeks ahead. But he said the nation can't seal itself off in the fight against the disease. (Oct. 29) Video provided by AP
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