Skip over navigation
The Hospital
Research
Support Us
Ottawa Hospital Research Institute
Home
Français
Directions & Maps
Contact Us
About Us
Vision and Strategic Directions
Board Chair and CEO Message
Leadership Team
Annual Reports
Facilities
Research Data Management
Equity, Diversity and Inclusion
Wellness
Our Research
Priorities, Programs and Diseases
Researcher Profiles
National Research Networks
Scientific Publications
Research Awards
Technology Transfer
Industry Sponsored Research
Responsible Innovation
For Students & Fellows
News & Events
Newsroom
Seminars & Events
Career Opportunities
For Patients
News & Events
Home
>
News & Events
>
Newsroom
Bookmark or Share
Display Options
Display Options
+
Increase
/
-
Decrease
font size
High contrast version
Printer-friendly version
Newsroom
Seminars & Events
Newsroom
Rare nerve disease linked to problems in cellular waste recycling
September 9, 2015
Dr.
Rashmi Kothary
and his team have made a breakthrough in understanding a rare inherited nerve disease that results in death before the age of two. Called HSAN-VI, this disease is caused by a mutation in a gene called dystonin. Dr. Kothary and his team examined mice with dystonin mutations and found that their sensory neurons (which transmit sight, sound and feeling to the brain or spinal cord) were all clogged up with partially recycled cellular components. Their research shows that the dystonin protein plays a key role in transporting these partially recycled materials (called autophagosomes) to the final recycling centres (called lysosomes). Further research could lead to new therapies for HSAN-VI, as well as many other neurological diseases that are linked to problems with cellular waste recycling. See
Autophagy
for details.
Co-authors
: Andrew Ferrier, Yves De Repentigny, Anisha Lynch-Godrei, Sabrina Gibeault, Walaa Eid, Daniel Kuo, Xiaohui Zha.
Funders
: Canadian Institutes of Health Research, Ontario Ministry of Colleges, Training and Universities, University of Ottawa, The Ottawa Hospital Foundation
For further information, please contact
Jennifer Ganton
Director, Communications and Public Relations,
Ottawa Hospital Research Institute
Office: 613-798-5555 x 73325
Cell:613-614-5253
jganton@ohri.ca