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.

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 July 29, 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 July 29, 2014).

Share This




More Health & Medicine News

Tuesday, July 29, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Deadly Ebola Virus Threatens West Africa

Deadly Ebola Virus Threatens West Africa

AP (July 28, 2014) West African nations and international health organizations are working to contain the largest Ebola outbreak in history. It's one of the deadliest diseases known to man, but the CDC says it's unlikely to spread in the U.S. (July 28) Video provided by AP
Powered by NewsLook.com
$15B Deal on Vets' Health Care Reached

$15B Deal on Vets' Health Care Reached

AP (July 28, 2014) A bipartisan deal to improve veterans health care would authorize at least $15 billion in emergency spending to fix a veterans program scandalized by long patient wait times and falsified records. (July 28) Video provided by AP
Powered by NewsLook.com
Two Americans Contract Ebola in Liberia

Two Americans Contract Ebola in Liberia

Reuters - US Online Video (July 28, 2014) Two American aid workers in Liberia test positive for Ebola while working to combat the deadliest outbreak of the virus ever. Linda So reports. Video provided by Reuters
Powered by NewsLook.com
Traditional African Dishes Teach Healthy Eating

Traditional African Dishes Teach Healthy Eating

AP (July 28, 2014) Classes are being offered nationwide to encourage African Americans to learn about cooking fresh foods based on traditional African cuisine. The program is trying to combat obesity, heart disease and other ailments often linked to diet. (July 28) 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:
from the past week

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