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

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