Genetic mutation causes ALS and Dementia
Posted September 21, 2011 3:33 pm.
This article is more than 5 years old.
VANCOUVER (NEWS1130) – Researchers in Vancouver have played a key role in finding a genetic mutation that causes Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig’s disease. They have also linked that mutation to Frontotemporal Dementia (FTD).
Dr. Ian Mackenzie, a neuropathologist at Vancouver General Hospital and professor in the Department of Pathology and Laboratory medicine at UBC, is part of a North American team including researchers at the Mayo Clinic in Florida, and the University of San Francisco.
He says the newly-discovered mutation is the most common genetic cause of each disease.
“Well, in the series we looked at, familial ALS cases, approximately 24 per cent of those had this mutation, and about 14 or 15 per cent of familial FTD cases.”
The flawed gene has also been linked to non-familial cases of the two neurodegenerative diseases.
“In addition, a significant, small but significant proportion of about four or five per cent of apparently sporadic cases of both ALS and FTD also have this mutation.”
Vancouver researchers were instrumental in the discovery that the genetic flaw impairs certain cells from carrying out normal functions. In addition, Dr. Mackenzie also found a pattern of pathology in cadaver brain tissue that allowed researchers to more accurately predict the presence of the mutation.
The local researchers worked with BC families with histories of ALS and FTD. The findings have been published in this month’s edition of Neuron.
