Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Gene that causes some cases of familial ALS discovered

10.12.2010
Finding could lead to new insight in understanding, treating more common forms of this fatal neurological disease

Using a new gene sequencing method, a team of researchers led by scientists from Johns Hopkins and the National Institutes of Health has discovered a gene that appears to cause some instances of familial amyotrophic lateral sclerosis (ALS). The finding could lead to novel ways to treat the more common form of this fatal neurodegenerative disease, which kills the vast majority of the nearly 6,000 Americans diagnosed with ALS every year.

Researchers don’t know exactly what causes ALS, which destroys the motor neurons that control the movement of all the body’s muscles, including those that control breathing. However, studies into the familial form of the disease, which affects 5 percent to 10 percent of those diagnosed with the disease, could shed some light on why motor neurons die in all types of ALS, says study leader Bryan J. Traynor, M.D., an assistant professor in the Department of Neurology at the Johns Hopkins University School of Medicine and chief of the Neuromuscular Diseases Research Group at the National Institutes of Health.

“If you look at the spectrum of diseases caused by dysfunctional genes, our knowledge of almost all of them has grown out of the familial form of those diseases,” Traynor says. By finding the genes associated with those diseases, he says, researchers can insert the causative genes in animals, creating models that can help them decipher what takes place to cause pathologies and develop ways to stop them.

Scientists were already aware of a handful of genes that appear to cause some cases of familial ALS. In the new study, published in the Dec. 9 issue of the journal Neuron, Traynor and his colleagues used a new technique known as exome sequencing to search for more. This new technique differs from the more common type of gene sequencing since it focuses only on the 1 percent to 2 percent of the genome that codes for proteins and ignores the remaining, non-coding DNA. Exome sequencing also sequences thousands of genes at the same time, rather than the step-by-step sequencing of the more traditional method, making exome sequencing significantly faster.

Traynor’s team worked with two affected members of an Italian family discovered by colleague Adriano Chiò, M.D., of the University of Turin, an ALS specialist who maintains a registry of all cases of the disease in northern Italy, and by Jessica Mandrioli, M.D., of the University of Modena. Using exome sequencing on these two ALS patients and 200 people without the disease, the scientists looked for gene differences that the ALS patients had in common that differed from the other samples. Their search turned up a gene called VCP, short for valosin-containing protein.

When the researchers looked for other instances in which this gene was mutated in 210 additional ALS patients, they found four different mutations that affect VCP in five individuals. None of these mutations were found in the genomes of hundreds of healthy controls, suggesting that VCP is indeed the cause for some of the ALS cases.

Though the scientists still don’t know exactly how mutated VCP might lead to ALS, they do know that this gene plays a role in a process known as ubiquination, which tags proteins for degradation. A glitch in this process could lead to too much or too little of some proteins being present in motor neurons, leading to their death. Eventually, Traynor says, scientists may be able to develop drugs that could transform this pathological process into a healthy one in ALS patients, saving motor neurons that otherwise would have died.

This work was supported in part by the Intramural Research Programs of the NIH, National Institute on Aging, and National Institute on Neurological Diseases and Stroke. The work was also funded by the Packard Center for ALS Research at Johns Hopkins, the Fondazione Vialli e Mauro for ALS Research Onlus, Federazione Italiana Giuoco Calcio, the Ministero della Salute, the Muscular Dystrophy Association, and the Woodruff Health Sciences Center at Emory University.

Jeffrey Rothstein, M.D., also of Johns Hopkins, participated in this study.

For more information, go to:
http://www.hopkinsmedicine.org/neurology_neurosurgery/specialty_areas/als/index.html

http://www.grc.nia.nih.gov/branches/lng/ndrg.htm

Christen Brownlee | EurekAlert!
Further information:
http://www.jhmi.edu

More articles from Life Sciences:

nachricht The balancing act: An enzyme that links endocytosis to membrane recycling
07.12.2016 | National Centre for Biological Sciences

nachricht Transforming plant cells from generalists to specialists
07.12.2016 | Duke University

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Significantly more productivity in USP lasers

In recent years, lasers with ultrashort pulses (USP) down to the femtosecond range have become established on an industrial scale. They could advance some applications with the much-lauded “cold ablation” – if that meant they would then achieve more throughput. A new generation of process engineering that will address this issue in particular will be discussed at the “4th UKP Workshop – Ultrafast Laser Technology” in April 2017.

Even back in the 1990s, scientists were comparing materials processing with nanosecond, picosecond and femtosesecond pulses. The result was surprising:...

Im Focus: Shape matters when light meets atom

Mapping the interaction of a single atom with a single photon may inform design of quantum devices

Have you ever wondered how you see the world? Vision is about photons of light, which are packets of energy, interacting with the atoms or molecules in what...

Im Focus: Novel silicon etching technique crafts 3-D gradient refractive index micro-optics

A multi-institutional research collaboration has created a novel approach for fabricating three-dimensional micro-optics through the shape-defined formation of porous silicon (PSi), with broad impacts in integrated optoelectronics, imaging, and photovoltaics.

Working with colleagues at Stanford and The Dow Chemical Company, researchers at the University of Illinois at Urbana-Champaign fabricated 3-D birefringent...

Im Focus: Quantum Particles Form Droplets

In experiments with magnetic atoms conducted at extremely low temperatures, scientists have demonstrated a unique phase of matter: The atoms form a new type of quantum liquid or quantum droplet state. These so called quantum droplets may preserve their form in absence of external confinement because of quantum effects. The joint team of experimental physicists from Innsbruck and theoretical physicists from Hannover report on their findings in the journal Physical Review X.

“Our Quantum droplets are in the gas phase but they still drop like a rock,” explains experimental physicist Francesca Ferlaino when talking about the...

Im Focus: MADMAX: Max Planck Institute for Physics takes up axion research

The Max Planck Institute for Physics (MPP) is opening up a new research field. A workshop from November 21 - 22, 2016 will mark the start of activities for an innovative axion experiment. Axions are still only purely hypothetical particles. Their detection could solve two fundamental problems in particle physics: What dark matter consists of and why it has not yet been possible to directly observe a CP violation for the strong interaction.

The “MADMAX” project is the MPP’s commitment to axion research. Axions are so far only a theoretical prediction and are difficult to detect: on the one hand,...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

ICTM Conference 2017: Production technology for turbomachine manufacturing of the future

16.11.2016 | Event News

Innovation Day Laser Technology – Laser Additive Manufacturing

01.11.2016 | Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

 
Latest News

NTU scientists build new ultrasound device using 3-D printing technology

07.12.2016 | Health and Medicine

The balancing act: An enzyme that links endocytosis to membrane recycling

07.12.2016 | Life Sciences

How to turn white fat brown

07.12.2016 | Health and Medicine

VideoLinks
B2B-VideoLinks
More VideoLinks >>>