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 Climate Impact Research in Hannover: Small Plants against Large Waves
17.08.2018 | Leibniz Universität Hannover

nachricht First transcription atlas of all wheat genes expands prospects for research and cultivation
17.08.2018 | Leibniz-Institut für Pflanzengenetik und Kulturpflanzenforschung

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Color effects from transparent 3D-printed nanostructures

New design tool automatically creates nanostructure 3D-print templates for user-given colors
Scientists present work at prestigious SIGGRAPH conference

Most of the objects we see are colored by pigments, but using pigments has disadvantages: such colors can fade, industrial pigments are often toxic, and...

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...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

LaserForum 2018 deals with 3D production of components

17.08.2018 | 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

 
Latest News

Smallest transistor worldwide switches current with a single atom in solid electrolyte

17.08.2018 | Physics and Astronomy

Robots as Tools and Partners in Rehabilitation

17.08.2018 | Information Technology

Climate Impact Research in Hannover: Small Plants against Large Waves

17.08.2018 | Life Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>