Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

3 in 1: team finds the gene responsible for three forms of childhood neurodegenerative diseases

13.09.2011
A Montreal-led international team has identified the mutated gene responsible for three forms of leukodystrophies, a group of childhood-onset neurodegenerative disorders.

Mutations in this gene were identified in individuals from around the world but one mutation occurs more frequently in French-Canadian patients from Quebec.

Published in the September issue of the American Journal of Human Genetics and selected for the Editors' Corner of the journal, the findings are crucial to the development of diagnostic tests and genetic counseling for families, and provide insights into a new mechanism for these disorders of the brain.

Currently, there are no cures for leukodystrophies which are a group of inherited neurodegenerative disorders affecting preferentially the white matter of the brain. White matter serves to cover nerve cell projections called axons, allowing nerve impulses to be correctly transmitted. Many children with a leukodystrophy appear normal at birth with very little or no indication that they have the disorder. Symptoms such as walking difficulties, falls or tremor gradually appear.

As they grow older they lose mobility, speech and develop swallowing difficulties, and as teenagers are often wheelchair bound or bed ridden. The majority of patients die prematurely. The evolution and symptoms vary according to the specific type of leukodystrophy. It is estimated that at least 30-40% of individuals with a leukodystrophy remain without a precise diagnosis despite extensive investigations.

The study identified the first mutations in the POLR3A gene in families from Quebec. Mutations in the same gene were found in patients from the USA, Syria, Guatemala, France, and other European countries. The international team was led by Drs Bernard Brais and Geneviève Bernard and included scientists from Montreal, Washington D.C., Dallas, Beirut, Paris, Clermont-Ferrand, and Bordeaux. The group was able to demonstrate that mutations in the same POLR3A gene localized on chromosome 10 were responsible for three clinically different forms of leukodystrophies: Tremor-Ataxia with Central Hypomyelination (TACH) first described in Quebec cases, Leukodystrophy with Oligodontia (LO), and 4H syndrome or Hypomyelination, Hypodontia and Hypogonadotropic Hypogonadism syndrome.

“We identified many different mutations in the POLR3A gene which codes for a key subunit of RNA Polymerase III (Pol III), a highly conserved protein complex with a crucial role in gene expression, and many other important pathways,” explains Dr. Brais. “This finding is surprising considering the fundamental role of Pol III. It is also an encouraging discovery because if we can identify which targets of Pol III, when decreased, lead to the disease, we could develop therapeutic strategies to replace them.” The research was conducted in the laboratory of Dr Brais at the Centre de recherche du Centre hospitalier de l’Université de Montréal (CRCHUM). Dr. Brais is now a clinician-scientist at The Montreal Neurological Institute and Hospital, The Neuro at McGill University, and Dr. Geneviève Bernard has recently been recruited as a clinician-researcher at The Montreal Children’s Hospital, McGill University Health Centre.

This research was funded by the Fondation sur les Leucodystrophies, created by a Quebec couple whose child is affected, in order to find a cure for this orphan disease (www.leucofondation.com). Support was also provided by l’Association Européenne contre les Leucodystrophies (http://www.ela-asso.com). The shared mission of both foundations is to increase public awareness of the disease, raise much needed funds for research and provide families with help and support. Support was also provided by the Réseau de médicine génétique appliquée du Québec (RMGA) and by the Fonds de recherche en santé du Québec (FRSQ).

The Montreal Neurological Institute and Hospital:

The Montreal Neurological Institute and Hospital — The Neuro, is a unique academic medical centre dedicated to neuroscience. The Neuro is a research and teaching institute of McGill University and forms the basis for the Neuroscience Mission of the McGill University Health Centre. Founded in 1934 by the renowned Dr. Wilder Penfield, The Neuro is recognized internationally for integrating research, compassionate patient care and advanced training, all key to advances in science and medicine. Neuro researchers are world leaders in cellular and molecular neuroscience, brain imaging, cognitive neuroscience and the study and treatment of epilepsy, multiple sclerosis and neuromuscular disorders. The Montreal Neurological Institute was named as one of the Seven Centres of Excellence in Budget 2007, which provided the MNI with $15 million in funding to support its research and commercialization activities related to neurological disease and neuroscience.

Anita Kar | EurekAlert!
Further information:
http://www.mcgill.ca

More articles from Life Sciences:

nachricht Copper hydroxide nanoparticles provide protection against toxic oxygen radicals in cigarette smoke
29.05.2017 | Johannes Gutenberg-Universität Mainz

nachricht Water forms 'spine of hydration' around DNA, group finds
26.05.2017 | Cornell 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: Can the immune system be boosted against Staphylococcus aureus by delivery of messenger RNA?

Staphylococcus aureus is a feared pathogen (MRSA, multi-resistant S. aureus) due to frequent resistances against many antibiotics, especially in hospital infections. Researchers at the Paul-Ehrlich-Institut have identified immunological processes that prevent a successful immune response directed against the pathogenic agent. The delivery of bacterial proteins with RNA adjuvant or messenger RNA (mRNA) into immune cells allows the re-direction of the immune response towards an active defense against S. aureus. This could be of significant importance for the development of an effective vaccine. PLOS Pathogens has published these research results online on 25 May 2017.

Staphylococcus aureus (S. aureus) is a bacterium that colonizes by far more than half of the skin and the mucosa of adults, usually without causing infections....

Im Focus: A quantum walk of photons

Physicists from the University of Würzburg are capable of generating identical looking single light particles at the push of a button. Two new studies now demonstrate the potential this method holds.

The quantum computer has fuelled the imagination of scientists for decades: It is based on fundamentally different phenomena than a conventional computer....

Im Focus: Turmoil in sluggish electrons’ existence

An international team of physicists has monitored the scattering behaviour of electrons in a non-conducting material in real-time. Their insights could be beneficial for radiotherapy.

We can refer to electrons in non-conducting materials as ‘sluggish’. Typically, they remain fixed in a location, deep inside an atomic composite. It is hence...

Im Focus: Wafer-thin Magnetic Materials Developed for Future Quantum Technologies

Two-dimensional magnetic structures are regarded as a promising material for new types of data storage, since the magnetic properties of individual molecular building blocks can be investigated and modified. For the first time, researchers have now produced a wafer-thin ferrimagnet, in which molecules with different magnetic centers arrange themselves on a gold surface to form a checkerboard pattern. Scientists at the Swiss Nanoscience Institute at the University of Basel and the Paul Scherrer Institute published their findings in the journal Nature Communications.

Ferrimagnets are composed of two centers which are magnetized at different strengths and point in opposing directions. Two-dimensional, quasi-flat ferrimagnets...

Im Focus: World's thinnest hologram paves path to new 3-D world

Nano-hologram paves way for integration of 3-D holography into everyday electronics

An Australian-Chinese research team has created the world's thinnest hologram, paving the way towards the integration of 3D holography into everyday...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Marine Conservation: IASS Contributes to UN Ocean Conference in New York on 5-9 June

24.05.2017 | Event News

AWK Aachen Machine Tool Colloquium 2017: Internet of Production for Agile Enterprises

23.05.2017 | Event News

Dortmund MST Conference presents Individualized Healthcare Solutions with micro and nanotechnology

22.05.2017 | Event News

 
Latest News

Copper hydroxide nanoparticles provide protection against toxic oxygen radicals in cigarette smoke

29.05.2017 | Life Sciences

How herpesviruses win the footrace against the immune system

26.05.2017 | Life Sciences

Water forms 'spine of hydration' around DNA, group finds

26.05.2017 | Life Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>