[S-02] Genetic and neuropathological approach decipher the molecular mechanism of idiopathic central nervous system demyelinating diseases

[S-02-2] Genetic studies on Japanese multiple sclerosis and neuromyelitis optica spectrum disorders

Takuya Matsushita¹, Noriko Isobe³, Shinya Sato², Ken Yamamoto⁴, Mitsuru Watanabe², Yuri Nakamura², Jun-ichi Kira², Japan Multiple Sclerosis Genetics Consortium² (1.Department of Neurology, Kyushu University Hospital, Japan, 2.Department of Neurology, Graduate School of Medical Sciences, Kyushu University, 3.Department of Neurological Therapeutics, Graduate School of Medical Sciences, Kyushu University, 4.Department of Medical Chemistry, School of Medicine, Kurume University)

Genome-wide association studies (GWAS) on multiple sclerosis (MS) in Caucasians have identified various risk genes, which are mainly related to immune functions. Molecular pathways leading to inflammatory demyelination are now becoming clearer. The first Japanese GWAS, enrolling more than 1,000 MS and neuromyelitis optica spectrum disorders (NMOSD) patients, has revealed the distinct risk genes from those in Caucasians, many of which are related to neuroglial functions. Molecular-immunopathological studies have also identified critical changes of glial cells in these conditions. Therefore, the aim of this symposium is to decipher the mechanisms of the MS and NMOSD by integrating the functions of the discovered genetic risk factors and the pathologically-proven molecular changes, with special attention on the demyelinating disorders more frequently encountered in Asians, such as NMOSD and Baló’s concentric sclerosis.

Jan. 2009 - Sep. 2009 Assistant Professor, Graduate School of Medical Sciences, Department of Neurology, Kyushu University
Oct. 2009 - Sep. 2012 Associate Professor, Graduate School of Medical Sciences, Department of Clinical Neuroimmunology, Kyushu University
Oct. 2012 - Jun.2014 Research Associate Professor, Graduate School of Medical Sciences, Department of Neurology, Kyushu University
Jul. 2014 - Jun. 2015 Associate Professor, Graduate School of Medical Sciences, Department of Neurological Therapeutics, Kyushu University
Jul. 2015 - Jun. 2016 Lecturer, Graduate School of Medical Sciences, Department of Neurology, Kyushu University
Jul. 2016 - Present Clinical Associate Professor, Department of Neurology, Kyushu University Hospital

From 2012 to 2014, he joined the Multiple Sclerosis Laboratory at the Department of Neurology in the UCSF School of Medicine