Cutting edge Seminar
Speaker: Daisuke Morito(Associate Professor, Department of Biochemistry, Showa University School of Medicine)
Title: Molecular Pathology of Cerebrovascular Moyamoya Disease
Date&Time: 15 Jan. (Wed.) 2020, 12:00- 13:00
Venue: Conference Room(1F), IMEG
Abstract:
Moyamoya disease is a characteristic cerebrovascular disorder mostly observed in East Asian countries. The carotid arteries are occluded at a very limited region in the skull, causing the cerebral infarction and associated intracranial hemorrhage, while how it occurs and why the lesion is so limited both remain largely unknown. We succeeded in the first molecular cloning of its responsible gene, which we named “mysterin” (PLOS ONE, 2011, cited 250 times), and started the exploration of its physiological and pathological roles. Mysterin gene encodes a large cytosolic protein with a molecular mass of about 600 kDa, which harbors two mechanical-type ATPase (AAA+) modules and a RING finger ubiquitin ligase domain. Multiple mutations associated with moyamoya disease have been identified in its RING finger domain and the C-terminal region. We have explored the activity, structure, and regulation of mysterin (Sci Rep, 2014, 2015, 2017), and identified that mysterin unexpectedly serves as a regulator of the cellular lipid metabolism (J Cell Biol, 2019). In the seminar, I would like to discuss the physiological and pathological aspects of this unique gene.
Reference:
1. #Liu, #Morito et al., PLOS ONE, 2011
2. Morito et al., Sci Rep, 2014
3. Kotani, *Morito et al., Sci Rep, 2015
4. Kotani, *Morito et al., Sci Rep, 2017
5. Sugihara, *Morito et al., J Cell Biol, 2019