Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Kidneys at risk

10.05.2010
A large-scale genetic study reveals a novel risk factor for a potentially fatal kidney disorder associated with diabetes

It is estimated that nearly a third of all diabetic patients may be at risk for diabetic nephropathy, a renal disorder that progresses slowly but can inflict severe and irreversible kidney damage.

“In Japan, more than 16,000 patients with diabetic nephropathy enter dialysis therapy per year, and these individuals account for 43% of all new [Japanese] cases requiring renal replacement therapy,” explains Shiro Maeda of the RIKEN Center for Genomic Medicine in Yokohama.

There is considerable evidence suggesting the existence of genetic risk factors for diabetic nephropathy, but efforts to directly identify candidate genes have been undermined by limited understanding of disease pathology. In such situations, genome-wide association studies, in which large populations are subjected to genetic analysis in order to identify single-nucleotide genomic variants potentially ‘linked’ to a condition of interest, offer a powerful alternative for disease gene discovery.

Maeda’s group recently launched such a study in partnership with a team of researchers from around the world, and their data have fingered a single nucleotide change in the gene encoding the enzyme acetyl-coenzyme A carboxylase beta (ACACB) as a significant risk factor for diabetic nephropathy among both Japanese and European populations1. This genetic variation was located within a non-protein-coding, regulatory segment of the gene, and appears to boost expression levels relative to the standard ACACB variant.

Strikingly, although type I and type II diabetes patients are both at risk for diabetic nephropathy, the polymorphism identified by Maeda and colleagues only showed significant association for patients with type II diabetes, which arises when individuals acquire resistance to the hormone insulin. “I think our report is the first to provide evidence suggesting the existence of diabetic nephropathy genes specific to patients with type 2 diabetes,” Maeda says. “However, this finding should be evaluated further.”

The gene ACACB is involved in the metabolism of fatty acids, which is in keeping with previous findings that have linked defects in this process with kidney disease. Nevertheless, as the first genetic factor to be explicitly linked to diabetic nephropathy, Maeda points out that considerably more research will be required to clarify the pathological role of ACACB and to uncover other potential accomplices.

“We will examine possible mechanisms by which ACACB contributes to development and progression of diabetic nephropathy using cultured human kidney cells or genetically engineered mice,” he says, “and we are also performing a larger-scale genome-wide association study to identify additional susceptibility genes.”

The corresponding author for this highlight is based at the Laboratory for Endocrinology and Metabolism, RIKEN Center for Genomic Medicine

Journal information

1. Maeda, S., Kobayashi, M., Araki, S., Babazono, T., Freedman, B.I., Bostrom, M.A., Cooke, J.N., Toyoda, M., Umezono, T., Tarnow, L. et al. A single nucleotide polymorphism within the acetyl-coenzyme A carboxylase beta gene is associated with proteinuria in patients with type 2 diabetes. PLoS Genetics 6, e1000842 (2010)

gro-pr | Research asia research news
Further information:
http://www.rikenresearch.riken.jp/eng/research/6257
http://www.researchsea.com

More articles from Life Sciences:

nachricht Seeing on the Quick: New Insights into Active Vision in the Brain
15.08.2018 | Eberhard Karls Universität Tübingen

nachricht New Approach to Treating Chronic Itch
15.08.2018 | Universität Zürich

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Unraveling the nature of 'whistlers' from space in the lab

A new study sheds light on how ultralow frequency radio waves and plasmas interact

Scientists at the University of California, Los Angeles present new research on a curious cosmic phenomenon known as "whistlers" -- very low frequency packets...

Im Focus: New interactive machine learning tool makes car designs more aerodynamic

Scientists develop first tool to use machine learning methods to compute flow around interactively designable 3D objects. Tool will be presented at this year’s prestigious SIGGRAPH conference.

When engineers or designers want to test the aerodynamic properties of the newly designed shape of a car, airplane, or other object, they would normally model...

Im Focus: Robots as 'pump attendants': TU Graz develops robot-controlled rapid charging system for e-vehicles

Researchers from TU Graz and their industry partners have unveiled a world first: the prototype of a robot-controlled, high-speed combined charging system (CCS) for electric vehicles that enables series charging of cars in various parking positions.

Global demand for electric vehicles is forecast to rise sharply: by 2025, the number of new vehicle registrations is expected to reach 25 million per year....

Im Focus: The “TRiC” to folding actin

Proteins must be folded correctly to fulfill their molecular functions in cells. Molecular assistants called chaperones help proteins exploit their inbuilt folding potential and reach the correct three-dimensional structure. Researchers at the Max Planck Institute of Biochemistry (MPIB) have demonstrated that actin, the most abundant protein in higher developed cells, does not have the inbuilt potential to fold and instead requires special assistance to fold into its active state. The chaperone TRiC uses a previously undescribed mechanism to perform actin folding. The study was recently published in the journal Cell.

Actin is the most abundant protein in highly developed cells and has diverse functions in processes like cell stabilization, cell division and muscle...

Im Focus: Lining up surprising behaviors of superconductor with one of the world's strongest magnets

Scientists have discovered that the electrical resistance of a copper-oxide compound depends on the magnetic field in a very unusual way -- a finding that could help direct the search for materials that can perfectly conduct electricity at room temperatur

What happens when really powerful magnets--capable of producing magnetic fields nearly two million times stronger than Earth's--are applied to materials that...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Within reach of the Universe

08.08.2018 | Event News

A journey through the history of microscopy – new exhibition opens at the MDC

27.07.2018 | Event News

2018 Work Research Conference

25.07.2018 | Event News

 
Latest News

Unraveling the nature of 'whistlers' from space in the lab

15.08.2018 | Physics and Astronomy

Diving robots find Antarctic winter seas exhale surprising amounts of carbon dioxide

15.08.2018 | Earth Sciences

Early opaque universe linked to galaxy scarcity

15.08.2018 | Physics and Astronomy

VideoLinks
Science & Research
Overview of more VideoLinks >>>