Navigation Links
Genetic discovery in Montreal for a rare disease in Newfoundland

This press release is available in French.

Researchers from the Guy Rouleau Laboratory affiliated with the CHUM Research Centre and the CHUSainte-Justine Research Centre have discovered the genetic cause of a rare disease reported only in patients originating from Newfoundland: hereditary spastic ataxia (HSA).

This condition is characterized by lower-limb spasticity (or stiffness) and ataxia (lack of coordination), the latter leading to speech and swallowing problems, and eye movement abnormalities. The disease is not deadly, but people start developing gait problems between 10 to 20 years of age, walk with a cane in their 30s, and in the most severe cases, are wheel-chair bound in their 50s. It has been shown that HSA is transmitted from the affected parent to the child in a dominant fashion, which means there is a 50% chance of the child having the mutation.

History of a discovery: collaboration between the University of Montreal and Memorial University

Researchers and clinicians from Memorial University (St. John's, Newfoundland) contacted Dr. Rouleau, who is also a professor of medicine at the University of Montreal, over a decade ago to investigate the genetics behind this disorder occurring in three large Newfoundland families. Dr. Inge Meijer, a former doctoral candidate in the Rouleau Laboratory, discovered that these families were ancestrally related, and in 2002, identified the locus (DNA region) containing the mutation causing HSA.

A few years later, Cynthia Bourassa, lead author of the study, took over Meijer's project. "I reexamined some unresolved details using newer and more advanced methods," explains Bourassa, who is a master's student in the Faculty of Medicine at the University of Montreal. She then teamed up with Dr. Nancy Merner, who after obtaining her Ph.D. at Memorial University moved to Montreal to further her career in genetic research. "It is an honour to be a part of this study and impact the lives of my fellow Newfoundlanders. I knew coming into the Rouleau Laboratory that the genetic factors of the HAS families had not yet been identified. In fact, I asked about them on my first day of work, shortly after which I teamed up with Cynthia and we found the gene!"

Scientific explanation:

The gene harbouring the mutation is VAMP1, encoding the synaptobrevin protein. "Not only was the mutation present in all patients and absent from all population controls, but also, synaptobrevin is a key player in neurotransmitter release, which made sense at the functional level as well," says Bourassa. In fact, the authors believe that this mutation in the VAMP1 gene may affect neurotransmission in areas of the nervous system where the synaptobrevin protein is located, causing the unique symptoms of HSA. In other words, there are not enough messengers released, so nerves cannot function optimally.

"The discovery will benefit the families affected with this extremely debilitating disorder," says Dr. Rouleau. "A genetic diagnostic test can be developed, and genetic counseling can be provided to family members who are at risk of developing the disease or having children with the condition."

Identification of the VAMP1 mutation was made in the Guy Rouleau Laboratory in collaboration with investigators from Newfoundland, Nova Scotia, and Ontario. Funding was provided by the Canadian Institutes for Health Research, the Canada Research Chair, and the Jeanne-et-J.-Louis-Levesque Chair for the Genetics of Brain Diseases.

Contact: Patrick Dion
University of Montreal

Related medicine news :

1. Scientists Inch Closer to Genetic Blueprint of Diseases
2. Could Internet Addiction Be Genetic?
3. New genetic clues to why most bone marrow transplant patients develop graft-versus-host disease
4. Genetic link to prostate cancer risk in African Americans found
5. New genetic risk factor for inflammation identified in African-American women
6. URMC researchers connect new genetic signature to leukemia
7. More clues about why chimps and humans are genetically different
8. Mans Best Friend Points the Way in Genetic Research
9. Pre-test genetic counseling increases cancer knowledge for BRCA patients
10. Genetic Studies Give Clues to Tourette Syndrome, OCD
11. Marin Countys high breast cancer rate may be tied to genetics
Post Your Comments:
(Date:11/25/2015)... ... 2015 , ... Finnleo, a leader in the traditional and far-infrared sauna industry, ... far-infrared saunas. , For traditional saunas, Finnleo is offering 20% off ... and Finnleo uses only European Grade A Nordic White Spruce from sustainably grown trees. ...
(Date:11/25/2015)... ... November 26, 2015 , ... Ministers, ... Union (EU), ANDI Pan African Centres of Excellence, and public R&D institutions, civil ... for the opening of the 5th African Network for Drugs and Diagnostics Innovation, ...
(Date:11/25/2015)... FL (PRWEB) , ... November 25, 2015 , ... ... center, is encouraging people across the country to celebrate their sobriety and show ... people to post “before and after” photos this Thanksgiving with the hashtag #FacesOfGratitude ...
(Date:11/25/2015)... ... November 25, 2015 , ... The McHenry County law firm of Botto ... by Attorneys Francisco J. Botto and Alex C. Wimmer. Attorneys Botto and Wimmer represented ... IL App (2d) 130884WC. , According to court documents, Adcock testified that on May ...
(Date:11/25/2015)... ... , ... Beddit® has launched a new Android app for use ... a more intuitive SleepScore™ that rates sleep quality on a 100-point scale and makes ... by a proprietary algorithm. Beddit analyzes the data to provide an easy to understand ...
Breaking Medicine News(10 mins):
(Date:11/24/2015)... November 25, 2015 The hope ... repeated failure of IVF cycles. After failure of over ... and had lost all hopes that she would be able to conceive ever. ... child conceived after failure of over 15 IVF cycles. ... before they decided to take one last attempt with Gaudium IVF ...
(Date:11/24/2015)... 2015  Thanks to a donor with a personal ... Center,s Sister Diane Grassilli Center for Women,s Health now ... San Francisco . Fred ... with a gift of $617,320 that allowed the Center ... Tomosynthesis and Whole Breast Ultrasound. Tomosynthesis, three-dimensional (3-D) mammography ...
(Date:11/24/2015)... Colo. , Nov. 24, 2015  Array ... that its Chief Executive Officer, Ron Squarer ... Healthcare Conference in New York.  The public is ... webcast on the Array BioPharma website.Event:Piper Jaffray Annual ... , Wednesday, December 2, 2015Time:1:30 p.m. Eastern Time ...
Breaking Medicine Technology: