PRESS-NEWS.org - Press Release Distribution
PRESS RELEASES DISTRIBUTION

Single gene controls development of many forms of polycystic disease

Single gene controls development of many forms of polycystic disease
2011-06-20
(Press-News.org) 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.



INFORMATION:

Sorin V Fedeles, Xin Tian, Anna-Rachel Gallagher, Michihiro Mitobe, Saori Nishio, Seung Hun Lee, Yiqiang Cai, Lin Geng and Craig Crews of Yale are co-authors of the paper.

The work was funded by the National Institutes of Health


[Attachments] See images for this press release:
Single gene controls development of many forms of polycystic disease

ELSE PRESS RELEASES FROM THIS DATE:

Call Blue Tax to Get Those Pesky IRS Revenue Officers Off Your Back!

2011-06-20
More and more now, the IRS officers who pursue back taxes are becoming aggressive and inflexible, demanding payments from taxpayers without regard for their personal situation. Pamela (Fresno, CA) was feeling the pinch from an IRS Revenue Officer who was hammering her to make a payment on the approximately $11,000 she owed to the IRS. At her wits' end, she contacted Blue Tax. The Blue Tax team interviewed Pamela and discovered that the Revenue Officer had given her a deadline to make a $200 payment. They were also able to ascertain that she indeed would be unable ...

Study of biomarker development in mice provides a roadmap for a similar approach in humans

2011-06-20
SEATTLE – Researchers at Fred Hutchinson Cancer Research Center have demonstrated in mice that the performance of a novel biomarker-development pipeline using targeted mass spectrometry is robust enough to support the use of an analogous approach in humans. The findings, by principal investigator Amanda Paulovich, M.D., Ph.D., an associate member of the Hutchinson Center's Clinical Research Division, are published in Nature Biotechnology. Paulovich and colleagues demonstrated that a staged, targeted pipeline approach using mass spectrometry to prioritize and validate proteins ...

50-year search for calcium channel ends

2011-06-20
Boston, MA (June 19, 2011)—Mitochondria, those battery-pack organelles that fuel the energy of almost every living cell, have an insatiable appetite for calcium. Whether in a dish or a living organism, the mitochondria of most organisms eagerly absorb this chemical compound. Because calcium levels link to many essential biological processes—not to mention conditions such as neurological disease and diabetes—scientists have been working for half a century to identify the molecular pathway that enables these processes. After decades of failed effort that relied on classic ...

Evans Consoles Awarded the 2011 Best of NeoCon "Innovation" Award

Evans Consoles Awarded the 2011 Best of NeoCon "Innovation" Award
2011-06-20
Evans Consoles is pleased to announce they have been chosen as the recipients of the 2011 Best of NeoCon "Innovation" Award, in the "Furniture Workstation Tables" category. Evans products were well received at NeoCon 2011, which is widely considered the "Premier North American event for Interior Design and Facilities Management." The ultimate open architecture solution for maximum sightlines and functionality, Evans' Strategy console has been specifically designed for technology-intensive, 24/7 environments. Strategy offers flexible equipment ...

Heart disease beats breast cancer as the biggest killer

2011-06-20
Breast cancer accounts for almost a third of all cancer cases reported in women. However advances in the treatment for breast cancer, and early detection, have improved the chances of survival from the disease. New research published in BioMed Central's open access journal Breast Cancer Research has found that two thirds of women with breast cancer died from other causes and that over the length of the study cardiovascular disease was the leading cause of death. Breast cancer is now the most common cancer in the UK affecting one in eight women with eight out of ten of ...

Proteins used to map the aging process

2011-06-20
Loss of muscle mass is not only associated with disease, such as HIV and cancer, but also with the normal aging process. Anabolic steroids are sometimes used to reverse loss of lean muscle tissue but they can have unwanted side effects. New research, published in BioMed Central's open access journal Immunity and Aging, shows that nine proteins, isolated from blood, alter with age and that the profile of some of these proteins can be reversed by testosterone treatment. In a combined study, researchers from Boston University School of Medicine and University of Texas Medical ...

New insights on an old material will enable design of better polymer batteries, water purification

New insights on an old material will enable design of better polymer batteries, water purification
2011-06-20
Designing new materials depends upon understanding the properties of today's materials. One such material, Nafion ©, is a polymer that efficiently conducts ions (a polymer electrolyte) and water through its nanostructure, making it important for many energy-related industrial applications, including in fuel cells, organic batteries, and reverse-osmosis water purification. But since Nafion was invented 50 years ago, scientists have only been able to speculate about how to build new materials because they have not been able to see details on how the molecules come together ...

Arctic snow harbors deadly assassin

2011-06-20
Heavy and prolonged snowfall can bring about unexpected conditions that encourage fungal growth, leading to the death of plants in the Arctic, according to experts. A new international study confirms that whilst snow has an insulating effect which helps plants to grow bigger, heavy and prolonged snow can, in certain circumstances, also encourage the rapid and extensive growth of killer fungal strains. The research results, published in the journal Nature Climate Change, show for the first time the potential long term effects of unexpected fungal development on an arctic ...

Climate change disasters could be predicted

2011-06-20
Climate change disasters, such as the melting of the Greenland ice sheet, dieback of the Amazon rainforest or collapse of the Atlantic overturning circulation, could be predicted according to University of Exeter research. Writing in the journal Nature Climate Change, Professor Tim Lenton of the University of Exeter shows that the 'tipping points' that trigger these disasters could be anticipated by looking for changes in climate behaviour. Climate 'tipping points' are small changes that trigger a massive shift in climate systems, with potentially devastating consequences. ...

Possible susceptibility genes found in neurodegenerative disorder

2011-06-20
JACKSONVILLE, Fla. — An international research team, co-led by scientists at Mayo Clinic's campus in Florida, have discovered three potential susceptibility genes for development of progressive supranuclear palsy (PSP), a rare neurodegenerative disease that causes symptoms similar to those of Parkinson's disease but is resistant to Parkinson's medications. Their report is being published online June 19 in Nature Genetics. The findings provide a "testable translational hypothesis" as to the development and progression of PSP and may also provide clues into other more common ...

LAST 30 PRESS RELEASES:

The secret to resolutions? Enjoy the pursuit, not the outcome

2024 Nano Research Young Innovators (NR45) Awards in Nanomaterial Self-assembly

How do the SOx and NOx in flue gas influence the adsorptive-catalytic performance of integrated carbon capture and in situ dry reforming?

Brain cancer discoveries earn UVA's Sontheimer international accolade

World Health Organization reporting system for soft tissue cytopathology

New aging clock predicts early risk of muscle loss in older adults

Does being a proficient swimmer mean you are safe in the water?

Older adults and AI: Poll suggests a wary welcome

Pusan National University researchers explore how generative AI can streamline fashion design

Korea University study proposes first toxicity-based exposure limits proposed for indoor airborne fungi

Uncovering the hidden emerging pathogen behind Aspergillosis cases in Japan

Patients with heart failure and atrial fibrillation undergoing transcatheter mitral edge-to-edge repair for severe mitral regurgitation are at significantly higher risk of death or rehospitalization

Shedding new light on invisible forces: hidden magnetic clues in everyday metals unlocked

AI can accelerate search for more effective Alzheimer’s medicines by streamlining clinical trials

Neanderthals at two nearby caves butchered the same prey in different ways, suggesting local food traditions

Specialty of the house: Neanderthals at two nearby caves butchered the same prey in different ways, suggesting local food traditions

‘Ultimate dinner party guests’: Dispersed communities attending feast in ancient Iran gifted boars sourced from distant lands

Temozolomide and radiation treatment lead to dramatic tumor shrinkage and improvement of hearing in an adult brainstem glioma patient with a rare IDH2 mutation

Unveiling the mystery of electron dynamics in the 'quantum tunneling barrier' for the first time

Do dogs judge you?

Human-AI ‘collaboration’ makes it simpler to solve quantum physics problems

Be Well Texas at UT Health San Antonio to lead major statewide expansion of opioid use disorder and recovery services

Freshwater fish, too, attracted to artificial root structures

In hard-to-treat form of tuberculosis, shorter, gentler therapy shows unequal benefit

Warming oceans a turn-off for female Critically Endangered sharks

University of Surrey launches Space Institute to drive the UK's small satellite boom and tackle urgent global challenges

Look to the data, not the marketing: Turfgrass research shows no differences in ‘penetrant’ and ‘retainer’ wetting agents

New organ recovery technique could make more heart transplants available

NCSA supporting Georgia Tech in new AI venture

Revised, more accurate Baltic ringed seal count – Hunting slows population growth

[Press-News.org] Single gene controls development of many forms of polycystic disease