Alzheimer protein found critical to brain development

October 30, 1999

Researchers from Mount Sinai Hospital's Samuel Lunenfeld Research Institute and the University of Toronto have discovered that some of the proteins responsible for familial Alzheimer's disease are also critical to mammalian development. The study is published in the November 1st edition of the journal Genes and Development.

Previous work in Toronto by Dr. Peter St. George Hyslop and others has shown that the human genes Presenilin 1 (PS1) and Presenilin 2 (PS2) are responsible for certain hereditary forms of Alzheimer's. To investigate how these proteins normally function, the Lunenfeld scientists developed mice lacking PS1 and PS2. These mutant mice do not survive past the early embryonic stage of development due to multiple defects, including brain development.

"The study shows that the same proteins that malfunction late in life have a key role in the beginning of life," said study author Dr. Alan Bernstein, director of the Samuel Lunenfeld Research Institute of Toronto's Mount Sinai Hospital and professor of medical genetics at the University of Toronto.

Post-doctoral researcher Dr. Dorit Donoviel, also of the Lunenfeld, said mice were used in the study because they are genetically and biochemically similar to humans. "These observations raise the intriguing possibility that early decisions in human development can have serious effects late in life," Dr. Donoviel says. "These mice will provide a valuable biological tool with which to understand the function of the molecules implicated in Alzheimer's Disease."

According to the Alzheimer Society of Canada there is no known cure for the disease that destroys vital nerve cells in the brain. Alzheimer Disease is the most common form of dementia, which affects 316,500 Canadians. The number is expected to grow to 750,000 Canadians affected by the year 2031.

The other study authors are: Anna-Katerina Hadjantonakis, Samuel Lunenfeld Research Institute of Mount Sinai Hospital; Masaki Ikeda, Centre for Research in Neurodegenerative Diseases and department of medicine, division of neurology, University of Toronto; Hui Zheng, Merck Research Laboratories, Rahway, New Jersey; Peter St. George Hyslop, Centre for Research in Neurodegenerative Diseases and department of medicine, division of neurology, University of Toronto and Toronto Western Hospital.

University of Toronto

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