Navigation Links
Kidney function discovery sheds light on genetic complexity of disease
Date:11/26/2008

To find a cure for cancer, haemophilia and other diseases, researchers need to be looking for complex, interacting genetic factors, according to the authors of a new study.

A new study, published in the Journal of Clinical Investigation by researchers at the Centenary Institute, Royal Prince Alfred Hospital (RPA) and The Australian National University (ANU), has exposed a greater level of genetic complexity for diseases than was originally thought.

The researchers looked at two disorders of kidney function - iminoglycinuria and hyperglycinuria. These disorders, first described 50 years ago, are conditions where large amounts of individual amino acids (the building blocks of proteins in our body) are wasted by the kidney.

Professor John Rasko, Head, Gene and Stem Cell Therapy program at Centenary Institute and Cell and Molecular Therapies at RPA, says although up to one in every thousand babies has this disorder at birth, it usually resolves in the first year of life. For those individuals in whom it continues to occur, it is generally thought not to cause medical problems but previous cases have been linked to high blood pressure, kidney stones, deafness and problems in the brain.

"Iminoglycinuria was observed to occur in families and the pattern of inheritance suggested that the cause might be due to an inherited abnormality of a specific pump on the surface of kidney cells," Professor Rasko explains.

The teams from Centenary Institute, RPA and ANU have now unravelled the genetic explanation by showing that not one, but up to four different pumps present in the kidney determine whether or not this particular abnormality occurs.

"The study demonstrates that in some cases mutations occur only in one gene, while in other cases mutations in two or even three different genes are observed, and that the disorders can arise due to mutations in a group of genes carrying out related functions," says Professor Stefan Broer, School of Biochemistry and Molecular Biology at ANU.

"From the point of view of understanding complex diseases in humans, it suggests we need to integrate much greater levels of complex genetic information to reach a clear understanding."

Professor Rasko says that these findings provide a foundation to improve our understanding of common human diseases, and greater potential to develop effective gene therapies to reduce the impact of diseases on patients.

"Gene therapies, whereby cells can be modified and then re-introduced into the body without the genetic mutations that cause illness, provide enormous potential to help cure diseases including haemophilia, cancer and cardiovascular disease," Professor Rasko explains.

"A crucial ingredient of successfully developing gene therapies is a thorough understanding of all the genetic factors at play in disease. This discovery takes us one step closer to understanding the complex factors at work in these serious diseases."


'/>"/>

Contact: Erin Sharp
e.sharp@centenary.org.au
029-565-6118
Research Australia
Source:Eurekalert

Related biology news :

1. Diet support helps chronic kidney patients
2. Genetic breakthrough offers promise in tackling kidney tumors
3. Northwestern Memorial trial may wean kidney transplant patients off antirejection drugs
4. Simple screening questionnaire for kidney disease outperforms current clinical practice guidelines
5. Gaining a better understanding of kidney diseases
6. High blood pressure takes big toll on small filtering units of the kidney
7. Scientists identify cell changes leading to impaired artificial kidney function
8. Geron Demonstrates hESC-derived cardiomyocytes improve heart function after myocardial infarction
9. Device helps patients survive, regain function til transplant
10. Specific brain protein required for nerve cell connections to form and function
11. Systems Biology poised to revolutionize the understanding of cell function and disease
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:1/12/2017)...  Trovagene, Inc. (NASDAQ: TROV ), a ... that it has signed agreements with seven strategic partners ... Middle East for commercialization of the ... wave of international distribution agreements for Trovagene,s CLIA based ... The initial partners will introduce Trovagene,s liquid biopsy ...
(Date:1/11/2017)... -- Michael Johnson, co-founder of Visikol Inc. a company originally funded with ... to the elite "Forbes 30 Under 30" list in the Science ... 20 fields nationwide to be recognized as a leader in business ... ... a PhD candidate at Rutgers University. Visikol ...
(Date:1/4/2017)... thousands of attendees at this year,s International Consumer Electronics Show (CES), ... devices and services, will be featuring its new line of ULTRA CONNECT ... special CES Exhibit Suite , the new upper arm and wrist smart ... product platform.  Continue Reading ... ...
Breaking Biology News(10 mins):
(Date:1/11/2017)... ... January 11, 2017 , ... ... Research show early promise of the investigational anti-cancer agent tucatinib (formerly ONT-380) against ... previous treatment regimens. Twenty-seven percent of these heavily pretreated patients saw clinical benefit ...
(Date:1/11/2017)... , ... January 11, 2017 , ... ... year and costing healthcare systems more than $23.7 billion, healthcare systems are ... , Among the most common sepsis-causing pathogens are bacteria and the yeast ...
(Date:1/11/2017)... ... 11, 2017 , ... Symbios Technologies, Inc., a ... Science Foundation (NSF) has awarded Symbios a Small Business Innovation Research (SBIR) ... the Symbios Tubular Plasma Reactor™ (TPR™) by scaling the system for first customer ...
(Date:1/11/2017)... 11, 2017  GenVec, Inc. (NASDAQ: ... today that its chief scientific officer, Douglas ...  "AdenoVerse™ platform for translational development of innovative gene ... the upcoming Phacilitate Cell & Gene Therapy World ... Florida.  Dr. Brough,s presentation will highlight the utility ...
Breaking Biology Technology: