[HT-15] ホットトピックス15
ALSの早期診断に向けて

[HT-15-4] An epigenetic study of age acceleration in ALS

^○Ekaterina Rogaeva¹, Ming Zhang^1,2, Paul M. M.. Mckeever^1,3, Zhengrui Xi², Tessa Bergsma¹, Philip Mcgoldrick^1,3, Julia Keith^3,4, Janice Robertson^1,3, Lorne Zinman^3,4 (1.Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 2.Shanghai First Rehabilitation Hospital, School of Medicine and Shanghai East Hospital, School of Medicine, Tongji University, 3.Department of Laboratory Medicine and Pathobiology, Toronto, 4.Sunnybrook Health Sciences Centre, Toronto)

ALS has been a non-curable disease, but its disease-modifying therapy is emerging increasingly. There have been hundreds of promising therapeutic agents tested for its efficacy in animal models, but only few have been approved for humans with limited efficacy. As in Alzheimer's disease, it may not be possible to change its natural course if the regimen is started too late. To this end, the diagnosis of ALS should be made early, and more surviving motor neurons be tested for the efficacy of any agent. One of these criteria for early electrophysiological diagnosis is Awaji-criteria, and its has been shown that the diagnosis is made possible several months earlier compared with Airlie House-El Escorial criteria with similar specificity. Other disease-markers, especially for detecting upper motor neuron involvement, are now being explored. In this talk, the most updated information is reviewed on these measures for early diagnosis, which make it possible to start a potentially effective treatment for disease modification.

Dr. Rogaeva’s graduate degree (1983) and PhD in Biochemistry (1988) were obtained at Moscow State University. For the past 28 years, Dr. Rogaeva have been doing research at the University of Toronto in the Centre for Research in Neurodegenerative Diseases. In 2001, she obtained the New Pioneer Award from the Ontario government in the Science & Technology category. In 2013, Dr. Rogaeva obtained the Lewy Body Chair position, and was promoted to Full Professor in the Department of Medicine in 2016. Dr. Rogaeva contributed to 310 peer-reviewed papers, many of which are focused on the development of effective genetic testing of Neurodegenerative Diseases (e.g. Parkinson’s Disease, Alzheimer’s Disease and Amyotrophic lateral sclerosis). For instance, she played a central role in the discovery of several genes associated with the early- and late-onset forms of Alzheimer’s Disease. Dr. Rogaeva's studies are focused on the genetic overlap between different neurodegenerative disorders. More recently, Dr. Rogaeva’s lab has been investigating if the risk of these diseases could be linked to epigenetic events (e.g. DNA methylation).