Navigation Links
Single gene controls development of many forms of polycystic disease
Date:6/19/2011

New Haven, Conn. A single gene is central in the development of several forms of polycystic kidney and liver disease, Yale School of Medicine researchers report in the June 19 issue of Nature Genetics.

The findings suggest manipulating activity of PKD1, the gene causing the most common form of polycystic kidney disease, may prove beneficial in reducing cysts in both liver and kidney.

"We found that these conditions are not the result of an all or nothing phenomenon," said Stefan Somlo, the C.N.H. Long Professor of Medicine and Genetics and Chief, Section of Nephrology and senior author of the study. "The less PKD1 is expressed, the more cysts develop. Conversely, expressing more PKD1 can slow the process."

The most common form of this condition is called autosomal dominant polycystic kidney disease (ADPKD), a condition passed on to children from one parent affected with the disease that is found in 600,000 people in the United States alone. Two genes, PKD1 and PKD2, are responsible for the onset of this condition.

PKD patients also develop cysts of the liver and Somlo and colleagues had previously identified families with identical cysts found only in the liver. They found two different genes were responsible for this related condition.

The researchers wanted to know how liver-only polycystic disease was related to ADPKD. In a series of experiments using both genetically engineered mouse models and biochemical studies, they found that the activity of only one of the four genes, PKD1, controlled cyst formation in the other forms of the disease. Experiments in mice showed that modulating dosage of PKD1 could slow disease progression.

"The data suggest the exciting possibility that targeting the activity of PKD1 may be beneficial for treatment of isolated polycystic liver disease, childhood recessive polycystic kidney disease and even a subset of adult ADPKD," said Somlo.

Yale is a leader in the investigation of PKD. For instance basic scientific research conducted at Yale has been crucial in helping to identify cilia, the tiny thread-like structure that extends from a cell's surface, as a critical component in cyst forming pathways. Yale has been the home of one of the four NIH-funded national centers of excellence in PKD research since 1999. In addition, the laboratory of Craig Crews, Lewis B. Cullman Professor of Molecular, Cellular, and Developmental Biology and Professor of Chemistry and of Pharmacology, has identified a compound that has shown promise in reducing number of cysts in some mouse models of PKD.


'/>"/>

Contact: Bill Hathaway
william.hathaway@yale.edu
203-432-1322
Yale University
Source:Eurekalert  

Related biology news :

1. Single GFP-expressing cell is basis of living laser device
2. Improving health assessments with a single cell
3. Scientists observe single gene activity in living cells
4. Species unique to single island should not be rare there
5. 3-D tracking of single molecules inside cells
6. Type 2 diabetes linked to single gene mutation in 1 in 10 patients
7. Single-cell marine predators unique survival mechanisms revealed: UBC research
8. Research shows single-patient rooms reduce hospital infections in ICU
9. Single cell studies identify coactivator role in fat cell maturation
10. Iowa State, Ames Lab researcher develops new way to study single biological molecules
11. Single parenthood doesnt pay off for plants
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Single gene controls development of many forms of polycystic disease
(Date:12/22/2016)... NEW YORK , December 22, 2016 ... global provider of secure solutions for the e-Government, Public Safety, HealthCare, ... a subsidiary of SuperCom, has been selected to implement and deploy ... county in Northern California , further expanding its ... ...
(Date:12/19/2016)... BARCELONA , España y TORONTO , 19 ... fusión con Northern Biologics Inc. que permitirá el desarrollo acelerado de ... ensayos clínicos en varios tipos de tumor en 2017, con múltiples ... ... de su clase con objetivo en el factor inhibidor de leucemia ...
(Date:12/16/2016)... global wearable medical device market, in terms of value, is projected ... in 2016, at a CAGR of 18.0% during the forecast period. ... Growth in ... launch of a growing number of smartphone-based healthcare apps compatible with ... increasing focus on physical fitness. Furthermore, growing trend ...
Breaking Biology News(10 mins):
(Date:1/19/2017)... , ... January 19, 2017 , ... FireflySci Inc. is ... rate. The tremendous growth is accounted to two main factors. The first ... the expanding network of vendors supplying FireflySci products all around the world. , 2016 ...
(Date:1/19/2017)... Jan. 18, 2017 BD (Becton, Dickinson and Company) (NYSE: ... that it will host a live webcast of its Annual Meeting ... The webcast can be accessed from the BD ... through Tuesday, January 31, 2017. ... About BD BD is a global medical ...
(Date:1/18/2017)... N.J. , Jan. 18, 2017   Parent ... the fight to end Duchenne muscular dystrophy (Duchenne) ... to the New Jersey Institute of Technology (NJIT) and ... exploration of robotic technology to assist people ... to incorporate NJIT,s technology – an embedded computer, software, ...
(Date:1/18/2017)... ... January 18, 2017 , ... MYOLYN, which ... it has submitted a 510(k) to the FDA, requesting clearance of the MyoCycle ... electrical stimulation (FES) technology. , The submission marks a major milestone for ...
Breaking Biology Technology: