Featured Research

from universities, journals, and other organizations

Copy number variation found to cause rare kidney disease

Date:
August 26, 2010
Source:
Wellcome Trust
Summary:
Researchers have identified a rare form of kidney disease linked to a genetic mutation in the innate immune system. So far, the disease, which the researchers have named CFHR5 nephropathy, has been identified in over one hundred people, all of whom are of Cypriot descent, including some living in the UK. Symptoms include blood in the urine – both microscopic and, occasionally, visible – and progressive kidney malfunction.

A rare form of kidney disease linked to a genetic mutation in the innate immune system has been identified by researchers funded by the Wellcome Trust and the Medical Research Council.

Related Articles


So far, the disease, which the researchers have named CFHR5 nephropathy, has been identified in over one hundred people, all of whom are of Cypriot descent, including some living in the UK. Symptoms include blood in the urine -- both microscopic and, occasionally, visible -- and progressive kidney malfunction.

Under current guidelines, the presence of blood in the urine, when not accompanied by traces of protein, urinary tract abnormalities or impairment to the kidneys, is considered benign and is not investigated further. However, in a study published in The Lancet, researchers from Imperial College London and UCL (University College London) show that in rare cases, it can be symptom of this progressive, chronic kidney disease.

The researchers, working with colleagues in Cyprus, identified an inherited kidney disorder caused by a copy number variation of the gene CFHR5. Copy number variations are large chunks of DNA either duplicated or deleted from our genes when passed down to children. CFHR5 is involved in the production of proteins used by the complement system, a key component of the body's innate immune response.

The mutation was found in twenty-six individuals from eleven families. All were of Cypriot ancestry. The researchers believe the mutation dates back to a single common ancestor over sixteen generations ago.

"We believe this mutation accounts for a significant proportion of kidney disease in the Cypriot population, both on the island itself and worldwide," says Dr Matthew Pickering, a Wellcome Trust Senior Fellow at Imperial College London. "It is a potentially serious disease, but easily detectable from a simple DNA or blood test."

Although scientists do not yet fully understand how the mutation leads to disease, the researchers believe that the findings should help them provide effective genetic counselling to families affected by the condition.

"People who carry just one copy of the genetic mutation will almost certainly develop the condition," says Professor Patrick Maxwell from UCL. "Now that we know the mutation responsible, we are in a position to offer genetic counselling to parents considering having children."

No evidence-based treatments currently exist for the condition, so the researchers are now focusing their research efforts on the development of therapies for CFHR5 nephropathy.


Story Source:

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


Journal Reference:

  1. Daniel P Gale, Elena Goicoechea de Jorge, H Terence Cook, Rubén Martinez-Barricarte, Andreas Hadjisavvas, Adam G McLean, Charles D Pusey, Alkis Pierides, Kyriacos Kyriacou, Yiannis Athanasiou, Konstantinos Voskarides, Constantinos Deltas, Andrew Palmer, Véronique Frémeaux-Bacchi, Santiago Rodriguez de Cordoba, Patrick H Maxwell, Matthew C Pickering. Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis. The Lancet, 2010; DOI: 10.1016/S0140-6736(10)60670-8

Cite This Page:

Wellcome Trust. "Copy number variation found to cause rare kidney disease." ScienceDaily. ScienceDaily, 26 August 2010. <www.sciencedaily.com/releases/2010/08/100825191652.htm>.
Wellcome Trust. (2010, August 26). Copy number variation found to cause rare kidney disease. ScienceDaily. Retrieved December 20, 2014 from www.sciencedaily.com/releases/2010/08/100825191652.htm
Wellcome Trust. "Copy number variation found to cause rare kidney disease." ScienceDaily. www.sciencedaily.com/releases/2010/08/100825191652.htm (accessed December 20, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Saturday, December 20, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

The Best Tips to Curb Holiday Carbs

The Best Tips to Curb Holiday Carbs

Buzz60 (Dec. 19, 2014) — It's hard to resist those delicious but fattening carbs we all crave during the winter months, but there are some ways to stay satisfied without consuming the extra calories. Vanessa Freeman (@VanessaFreeTV) has the details. Video provided by Buzz60
Powered by NewsLook.com
Sierra Leone Bikers Spread the Message to Fight Ebola

Sierra Leone Bikers Spread the Message to Fight Ebola

AFP (Dec. 19, 2014) — More than 100 motorcyclists hit the road to spread awareness messages about Ebola. Nearly 7,000 people have now died from the virus, almost all of them in west Africa, according to the World Health Organization. Video provided by AFP
Powered by NewsLook.com
Researchers Test Colombian Village With High Alzheimer's Rates

Researchers Test Colombian Village With High Alzheimer's Rates

AFP (Dec. 19, 2014) — In Yarumal, a village in N. Colombia, Alzheimer's has ravaged a disproportionately large number of families. A genetic "curse" that may pave the way for research on how to treat the disease that claims a new victim every four seconds. Duration: 02:42 Video provided by AFP
Powered by NewsLook.com
The Best Protein-Filled Foods to Energize You for the New Year

The Best Protein-Filled Foods to Energize You for the New Year

Buzz60 (Dec. 19, 2014) — The new year is coming and nothing will energize you more for 2015 than protein-filled foods. Fitness and nutrition expert John Basedow (@JohnBasedow) gives his favorite high protein foods that will help you build muscle, lose fat and have endless energy. Video provided by Buzz60
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