Takeyori Saheki MD, PhD

Takeyori Saheki graduated from the Graduate School of Medicine, Tokushima University in 1970, and he got a PhD degree at Tokushima University. In 1980, he was appointed as a Professor of Biochemistry, at the Faculty of Medicine, at Kagoshima University. At present, he is a Guest Researcher at the Department of Hygiene and Health Promotion Medicine, Kagoshima University Graduate School of Medical and Dental Sciences.

Professor Saheki characterized a type of hepatocerebral disease biochemically as adult-onset type II citrullinemia (CTLN2). He discovered the causative gene for CTLN2 and showed that the same gene is the cause of neonatal intrahepatic cholestasis (NICCD). He named the disease citrin deficiency and identified the gene encoding mitochondrial aspartate glutamate carrier. Also, Prof. Saheki invented a mouse model for citrin deficiency, citrin, and mitochondrial glycerol 3-phosphate dehydrogenase double-KO mouse, and by using the model, characterized the pathophysiology of citrin deficiency and developed novel therapeutic procedures for the disease.