Satellite Banner
Scientific Communities
Become a Member | Sign in
Home>News>This Article

Surprising Mechanism Discovered in Polycystic Kidney Disease

Published: Monday, July 29, 2013
Last Updated: Monday, July 29, 2013
Bookmark and Share
A study has uncovered a new and unexpected molecular mechanism in the development of polycystic kidney disease, or PKD.

PKD is a life-threatening genetic disorder that causes multiple cysts to form on the kidneys — enlarging them, cutting off proper urine flow, and causing kidney failure in half of affected people by age 60. It affects more than 12 million people worldwide.

Cilia are the hair-like structures on the surface of many human cells that can either move things along – dirt out of the lungs, or an egg from the ovary to the uterus – or sense the environment, such as vision in the retina or smell in the nose. Recent research has implicated defects in the sensory cilia — often caused by genetic mutations — in many human diseases, including cancer, cardiac disease, blindness, and kidney disease. In the kidney, disruption of sensory cilia cause kidney cysts.

The polycystin-1 and -2 (also known as PC1 and PC2) proteins are key players in the normal functioning of the kidneys. Earlier research has shown that when they are lost or mutated, cysts grow in the kidneys and cause almost all cases of PKD in humans.

Working in mice, the Yale team found that cysts grew when the cilia were intact but lacked polycystin — but, surprisingly, cysts stopped growing despite the absence of polycystins when the cilia were disrupted or eliminated.

The activity of this pathway, and the timing of the loss of polycystin proteins and the cilia, determined the severity of both early- and adult-onset PKD, the researchers found.

“None of the other pathways discovered so far have proven as universal as the cilia dependent pathway in explaining polycystic kidney disease,” said corresponding author Dr. Stefan Somlo, professor of internal medicine (nephrology) and genetics at Yale School of Medicine. “We found to our surprise that elimination of cilia suppresses cyst growth in all of the genetic models of human PKD.”

Somlo believes that his team’s research could lead to discovery of new targets for therapies to inhibit this cilia-dependent pathway of PKD, and slow cyst growth.

Other authors are Ming Ma and Xin Tian of Yale, Peter Igarashi of the University of Texas Southwestern School of Medicine, and Gregory Pazour of the University of Massachusetts Medical School.

Further Information

Join For Free

Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 3,500+ scientific posters on ePosters
  • More Than 5,100+ scientific videos on LabTube
  • 35 community eNewsletters

Sign In

Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Related Content

Study Finds Key Regulator in Pulmonary Fibrosis
Researchers identify an enzyme that could open the way to therpies for chronic fatal lung disease.
Thursday, October 20, 2016
Alzheimer’s-Linked Protein May Play Role in Schizophrenia
Researchers suggests a protein linked to cognitive decline in Alzheimer's also plays a role in genetic predisposition to schizophrenia.
Wednesday, October 19, 2016
Ovarian Cancer Insight
Study showed tumours release cytokines to attract macrophages, which secrete growth factors that in turn promote tumour growth.
Wednesday, October 19, 2016
Fatty Liver Disease Linked to Type 2 Diabetes
Recent study identifies factors causing insulin to misbehave in non-alcoholic fatty liver disease.
Tuesday, October 18, 2016
New Model for Understanding Human Myeloma
Researchers develop mouse model where mice carry six human genes involved in human tumour growth.
Monday, October 17, 2016
Less is More in Ribosome Assembly
Research uncovers genetic "program" that allows for ribosome formation with a limited supply of magnesium.
Monday, October 17, 2016
Genes Behind Certain Aggressive Cancers Identified
Researchers have found the genes behind aggressive ovarian and endometrial cancers.
Tuesday, October 11, 2016
Cancer Drug Resistance Runs Deeper Than Single Gene
Study suggests abnormalities in gene networks offer better therapy response prediction than individual genes.
Monday, October 10, 2016
New Way to Suppress Lung Tumours
Researchers uncover new blocking mechanism that inhibits cancer growth without blockading critical process.
Wednesday, October 05, 2016
Insight into Eye Diseases
Scientists recreate zebrafish cell regeneration from retinal stem cells in mice.
Wednesday, September 28, 2016
Studies Explore the Science of Cardiovascular Diseases
Two studies highlight how basic science research insights are key to future treatment breakthroughs.
Monday, September 26, 2016
Fighting Cancer with Sticky Nanoparticles
Treatment that uses bioadhesive nanoparticles drug carriers proved more effective than conventional treatments for certain cancers.
Thursday, September 22, 2016
Small Molecules Lead to a Big Change in Reaction Outcomes
Scientists have changed the behaviour of a group of molecules involved in carbon-oxygen bond synthesis.
Wednesday, September 21, 2016
Gene-Editing 'Toolbox' Targets Multiple Genes Simultaneously
Researchers have designed a system that modifies, or edits, multiple genes in a genome at once while minimising unintentional effects.
Thursday, July 28, 2016
Effects Of Maternal Smoking Continue Long After Birth
Yale study shows that maternal smoking is linked to behavioural changes.
Wednesday, June 01, 2016
Scientific News
Integrated Omics Analysis
Studying multi-omics promises to give a more holistic picture of the organism and its place in its ecosystem, however despite the complexities involved those within the field are optimistic.
Unravelling the Role of Key Genes and DNA Methylation in Blood Cell Malignancies
Researchers from the University of Nebraska Medical Center have demonstrated the role of Dnmt3a in safeguarding normal haematopoiesis.
Salford Lung Study - The First Real World Clinical Trial
In this podcast, we learn about the Salford Lung Study and its potential to revolutionize the way we assess new drugs and treatments around the world.
Point of Care Diagnostics - A Cautious Revolution
Advances in molecular biology, coupled with the miniaturization and improved sensitivity of assays and devices in general, have enabled a new wave of point-of-care (POC) or “bedside” diagnostics.
Mass Spec Technology Drives Innovation Across the Biopharma Workflow
With greater resolving power, analytical speed, and accuracy, new mass spectrometry technology and techniques are infiltrating the biopharmaceuticals workflow.
Structure of Primary Cannabinoid Receptor is Revealed
The findings provide key insights into how natural and synthetic cannabinoids including tetrahydrocannabinol —a primary chemical in marijuana—bind at the CB1 receptor to produce their effects.
Overlooked Molecules Could Revolutionise our Understanding of the Immune System
Researchers have discovered that around one third of all the epitopes displayed for scanning by the immune system are a type known as ‘spliced’ epitopes.
Illumina Contributes to ClinVar Database
The contribution includes variants of all classifications, from pathogenic to benign, identified during interpretation of whole genome sequences generated in the CLIA-certified, CAP-accredited Illumina Clinical Services Laboratory.
Agilent Presents Early Career Professor Award to Dr. Roeland Verhaak
JAX professor recognized for the development and implementation of workflows for the analysis of big-data from transcriptomics to next generation sequencing approaches.
NIH Study Determines Key Differences between Allergic and Non-Allergic Dust Mite Proteins
Researchers at NIH have uncovered factors that lead to the development of dust mite allergy and assist in the design of better allergy therapies.
Scroll Up
Scroll Down
Skyscraper Banner

Skyscraper Banner
Go to LabTube
Go to eposters
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
3,500+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
5,100+ scientific videos