Huntington's disease study shows animal models on target

Jul 31, 2007

An international team of researchers has published a benchmark study showing that gene expression in several animal models of Huntington’s Disease (HD) closely resembles that of human HD patients.

The results, published August 1, 2007, in the journal Human Molecular Genetics, validate the applicability of using animal models to study human disease and will have important consequences for the pertinence of these models in preclinical drug testing.

Huntington's disease is an incurable and fatal hereditary neurodegenerative disorder caused by a mutation in the gene that encodes the huntingtin protein. Neurons in certain regions of the brain succumb to the effects of the altered protein, leading to severe motor, psychiatric, and cognitive decline. Several recent studies have shown that the mutant huntingtin protein modifies the transcriptional activity of genes in affected neurons. This disease mechanism is a promising new avenue for research into the causes of neuronal death and a novel potential approach for treatment.

Led by EPFL professor Ruth Luthi-Carter, and involving collaborators from six countries, the current study found a marked resemblance between the molecular etiology of neurons in animal models and neurons in patients with HD. This implies that animal models are relevant for studying human HD and testing potential treatments.

To come to this conclusion, the scientists measured the gene expression profile of seven different transgenic mouse models of HD, representing different conditions and disease stages. These profiles clarified the role of different forms and dosages of the protein hungtintin in the transcriptional activity of neurons. They then designed and implemented novel computational methods for quantifying similarities between RNA profiles that would allow for comparisons between the gene expression in mice and in human patients. “Interestingly, results of different testing strategies converged to show that several available models accurately recapitulate the molecular changes observed in human HD,” explains Luthi-Carter. “It underlines the suitability of these animal models for preclinical testing of drugs that affect gene transcription in Huntington’s Disease.”

Source: Ecole Polytechnique Fédérale de Lausanne

Explore further: Bioethicists use theatrical narratives to bridge the gap between society and science

add to favorites email to friend print save as pdf

Related Stories

Biologists help solve fungi mysteries

Apr 17, 2014

(Phys.org) —A new genetic analysis revealing the previously unknown biodiversity and distribution of thousands of fungi in North America might also reveal a previously underappreciated contributor to climate ...

Aging research goes to the dogs

Apr 15, 2014

From ancient alchemical quests to modern biological research, efforts to understand and combat human aging have borne few fruits. Now Cornell scientists aim to bridge the gap between lab research and aging's ...

Does germ plasm accelerate evolution?

Apr 14, 2014

Scientists at The University of Nottingham have published research in the leading academic journal Science that challenges a long held belief about the way certain species of vertebrates evolved.

Recommended for you

Surprising new insights into the PTEN tumor suppressor gene

2 hours ago

Ever since it was first identified more than 15 years ago, the PTEN gene has been known to play an integral role in preventing the onset and progression of numerous cancers. Consequently, when PTEN is either lost or mutated, ...

Scientists find new genes on male sex chromosomes

6 hours ago

Scientists are a step closer to discovering what determines the sex of Australia's iconic platypus and echidna, after an international study involving researchers from the University of Adelaide and UNSW Australia unravelled ...

User comments : 0

More news stories

Genetic code of the deadly tsetse fly unraveled

Mining the genome of the disease-transmitting tsetse fly, researchers have revealed the genetic adaptions that allow it to have such unique biology and transmit disease to both humans and animals.

Ocean microbes display remarkable genetic diversity

The smallest, most abundant marine microbe, Prochlorococcus, is a photosynthetic bacteria species essential to the marine ecosystem. An estimated billion billion billion of the single-cell creatures live i ...