Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Gene expression levels may reveal stage of Huntington’s disease

17.08.2005


Markers could help track response to new therapies, protective strategies



A survey of the genome of patients with Huntington’s Disease (HD) has identified potential markers of the progression of this devastating neurological disorder. Researchers from the MassGeneral Institute for Neurodegenerative Disorders (MIND) found a set of genes that are expressed at higher levels in blood samples from people with HD than in samples from controls. The expression of these genes also rose as the disease progressed from asymptomatic to symptomatic stage. The study has been published in the August 2 issue of Proceedings of the National Academy of Sciences.

"These biomarkers may be valuable in monitoring patients’ response to experimental treatments," says Dimiti Krainc, MD, PhD, of MIND and the MGH Department of Neurology. "Since these changes can be seen at the earliest stages of the disease, they may be particularly helpful in evaluating neuroprotective strategies that could be applied before symptoms develop."


HD is an inherited disorder caused by a mutation in the gene for a protein called huntingtin. Although its normal function has not yet been discovered, huntingtin is essential for growth and development. The HD-associated mutation involves excessive repetition of a specific gene segment, causing an abnormal version of the protein to accumulate in the brain and destroy brain cells in an area called the striatum. Symptoms of HD, which usually begin to appear in the middle years, include uncontrolled movement, erratic emotions and problems with thinking and memory. Symptoms worsen over the 10- to 30-year course of the disorder, until patients die from a variety of complications.

Although HD appears to affect only the central nervous system, mutant huntingtin and proteins it interacts with are found throughout the body, including blood cells. This suggests that the mutation may have effects that, while not producing symptoms, could show up on a blood test. Such a test could provide a more accessible way to monitor the underlying disease process in the brain. The MGH team analyzed blood samples from patients with HD, including asymptomatic carriers of the HD mutation, and compared their gene expression patterns to those of control participants.

The researchers found hundreds of genes for which expression levels were significantly altered in HD patients or carriers, compared with controls, and then identified a set of 12 genes for which the differences were most significant. In addition, expression levels in younger presymptomatic carriers of the HD mutation were closer to those of the controls and rose to disease-associated levels in carriers approaching the age at which symptoms usually appear. The investigators then analyzed blood samples from participants in a Phase 1 trial of a potential HD treatment and found that four weeks of treatment produced a significant reduction in expression of the 12-gene set in most participants.

"We need to analyze these findings in a larger phase III clinical study where changes in gene expression can be correlated with possible delay in disease onset or progression. Moreover, further research may identify other combinations of marker genes that reflect various stages of HD and predict clinical effects of new experimental treatments," says Krainc. He also notes that the identified 12-gene set is only one potentially useful biomarker, and others of the hundreds of genes with altered expression may also provide critical information in various clinical situations. Krainc is an assistant professor of Neurology at Harvard Medical School.

Sue McGreevey | EurekAlert!
Further information:
http://www.mgh.harvard.edu

More articles from Life Sciences:

nachricht Single-stranded DNA and RNA origami go live
15.12.2017 | Wyss Institute for Biologically Inspired Engineering at Harvard

nachricht New antbird species discovered in Peru by LSU ornithologists
15.12.2017 | Louisiana State 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: First-of-its-kind chemical oscillator offers new level of molecular control

DNA molecules that follow specific instructions could offer more precise molecular control of synthetic chemical systems, a discovery that opens the door for engineers to create molecular machines with new and complex behaviors.

Researchers have created chemical amplifiers and a chemical oscillator using a systematic method that has the potential to embed sophisticated circuit...

Im Focus: Long-lived storage of a photonic qubit for worldwide teleportation

MPQ scientists achieve long storage times for photonic quantum bits which break the lower bound for direct teleportation in a global quantum network.

Concerning the development of quantum memories for the realization of global quantum networks, scientists of the Quantum Dynamics Division led by Professor...

Im Focus: Electromagnetic water cloak eliminates drag and wake

Detailed calculations show water cloaks are feasible with today's technology

Researchers have developed a water cloaking concept based on electromagnetic forces that could eliminate an object's wake, greatly reducing its drag while...

Im Focus: Scientists channel graphene to understand filtration and ion transport into cells

Tiny pores at a cell's entryway act as miniature bouncers, letting in some electrically charged atoms--ions--but blocking others. Operating as exquisitely sensitive filters, these "ion channels" play a critical role in biological functions such as muscle contraction and the firing of brain cells.

To rapidly transport the right ions through the cell membrane, the tiny channels rely on a complex interplay between the ions and surrounding molecules,...

Im Focus: Towards data storage at the single molecule level

The miniaturization of the current technology of storage media is hindered by fundamental limits of quantum mechanics. A new approach consists in using so-called spin-crossover molecules as the smallest possible storage unit. Similar to normal hard drives, these special molecules can save information via their magnetic state. A research team from Kiel University has now managed to successfully place a new class of spin-crossover molecules onto a surface and to improve the molecule’s storage capacity. The storage density of conventional hard drives could therefore theoretically be increased by more than one hundred fold. The study has been published in the scientific journal Nano Letters.

Over the past few years, the building blocks of storage media have gotten ever smaller. But further miniaturization of the current technology is hindered by...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

See, understand and experience the work of the future

11.12.2017 | Event News

Innovative strategies to tackle parasitic worms

08.12.2017 | Event News

AKL’18: The opportunities and challenges of digitalization in the laser industry

07.12.2017 | Event News

 
Latest News

Engineers program tiny robots to move, think like insects

15.12.2017 | Power and Electrical Engineering

One in 5 materials chemistry papers may be wrong, study suggests

15.12.2017 | Materials Sciences

New antbird species discovered in Peru by LSU ornithologists

15.12.2017 | Life Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>