Effective drugs for Parkinson's reduce symptoms of Rett syndrome in mice

June 16, 2014
Effective drugs for Parkinson's reduce symptoms of Rett syndrome in mice
The nerve endings (dendrites of neurons) are scarce in Rett syndrome (left). Treatment with the drugs described in the article increases the nerve endings, thereby enhancing neural activity (right). Credit: IDIBELL

IDIBELL researchers, led by the director of the Program for Epigenetics and Cancer Biology, ICREA researcher and Professor of Genetics at the University of Barcelona, Manel Esteller, have shown that a combination of effective drugs for Parkinson's disease in mice that are used as a model of human Rett syndrome reduces some of the symptoms associated with this disease. The results of the study are published in the journal Neurophsycopharmacology

Second leading cause of mental retardation in females

Rett syndrome is the second most common cause of in women, after Down syndrome. It is a neurodevelopmental disease whose clinical picture begins to appear 6-18 months after birth and involves a loss of intellectual, social and motor skills, accompanied by autistic behaviors, such as repetitive movements of the hands.

The syndrome is usually due to the presence of a mutation in the MECP2 gene, an epigenetic gene which controls the activity of many other genes like a padlock. Today there is no effective treatment of the disease. Manel Esteller's group, in collaboration with the group of neurometabolic diseases IDIBELL led by Aurora Pujol, described this week in the journal Neuropsycopharmacology how drug treatment in mice used as models of Rett syndrome reduces some of the symptoms associated with the disease .

Altered production via Dopamine

"Six years ago, studying the brains of mice that faithfully present the same characteristics of human Rett syndrome, we found that there was an alteration in the way of production of dopamine, a neurotransmitter. Here, Rett syndrome bore some resemblance to Parkinson, which also presents defects in the same molecule.

There are effective drugs in Parkinson's so we decided to study whether they could also function in Rett syndrome, "says Manel Esteller. "We found that combined treatment with L-Dopa and Dopa decarboxylase inhibitor reduces typical manifestations of the disease and mobility defects, tremor and respiratory distress in these animals."

"This is not a panacea or a magic pill or" warns Esteller "but at least is a starting point to study whether it may also be useful in controlling the symptoms of Rett syndrome in humans."

Explore further: 'Dark genome' is involved in Rett Syndrome

More information: Improvement of the Rett Syndrome Phenotype in a Mecp2 Mouse Model Upon Treatment with Levodopa and a Dopa Decarboxylase Inhibitor. Szczesna K, de la Caridad O, Petazzi P, Soler M, Roa L, Saez MA, Fourcade S, Pujol A, Artuch-Iriberri R, Molero-Luis M, Vidal A, Huertas D, Esteller M. Neuropsychopharmacology, DOI: 10.1038/npp.2014.136, 2014.

Related Stories

'Dark genome' is involved in Rett Syndrome

May 2, 2013
Researchers at the Epigenetics and Cancer Biology Program at IDIBELL led by Manel Esteller, ICREA researcher and professor of genetics at the University of Barcelona, have described alterations in noncoding long chain RNA ...

New drug offers hope for devastating childhood disease

April 9, 2014
A powerful new drug which could relieve the symptoms of devastating childhood disease Rett syndrome is on the horizon thanks to a funding injection of £180,000.

Rett syndrome gene dysfunction redefined

October 3, 2013
Whitehead Institute researchers have redefined the function of a gene whose mutation causes Rett syndrome, a neurodevelopmental autism spectrum disorder. This new research offers an improved understanding of the defects found ...

Mecasermin (rh-IGF-1) treatment for Rett Syndrome is safe and well-tolerated

March 10, 2014
The results from Boston Children's Hospital's Phase 1 human clinical trial in Rett syndrome came out today. A team of investigators successfully completed a Phase 1 clinical trial using mecasermin [recombinant human insulin-like ...

Discovery may lead to new treatment for Rett Syndrome

January 28, 2012
Researchers at Oregon Health & Science University have discovered that a molecule critical to the development and plasticity of nerve cells – brain-derived neurotrophic factor (BDNF) -- is severely lacking in brainstem ...

Recommended for you

Waterlogged brain region helps scientists gauge damage caused by Parkinson's disease

July 26, 2017
Scientists at the University of Florida have discovered a new method of observing the brain changes caused by Parkinson's disease, which destroys neurons important for movement. The development suggests that fluid changes ...

Parkinson's is partly an autoimmune disease, study finds

June 21, 2017
Researchers have found the first direct evidence that autoimmunity—in which the immune system attacks the body's own tissues—plays a role in Parkinson's disease, the neurodegenerative movement disorder. The findings raise ...

Predicting cognitive deficits in people with Parkinson's disease

June 20, 2017
Parkinson's disease (PD) is commonly thought of as a movement disorder, but after years of living with PD approximately twenty five percent of patients also experience deficits in cognition that impair function. A newly developed ...

Pre-clinical study suggests Parkinson's could start in gut endocrine cells

June 15, 2017
Recent research on Parkinson's disease has focused on the gut-brain connection, examining patients' gut bacteria, and even how severing the vagus nerve connecting the stomach and brain might protect some people from the debilitating ...

Hi-res view of protein complex shows how it breaks up protein tangles

June 15, 2017
Misfolded proteins are the culprits behind amyotrophic lateral sclerosis (ALS), Alzheimer's disease, Parkinson's disease, and other neurodegenerative brain disorders. These distorted proteins are unable to perform their normal ...

CRISPR tech leads to new screening tool for Parkinson's disease

June 5, 2017
A team of researchers at the University of Central Florida is using breakthrough gene-editing technology to develop a new screening tool for Parkinson's disease, a debilitating degenerative disorder of the nervous system. ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.