Emile Van Schaftingen

Major achievements

• Discovery of fructose-2,6-bisphosphate (with Louis Hue and Henri-Géry Hers)
• Discovery of the regulatory protein of glucokinase (GCKR)
• Discovery of protein deglycation
• Discovery of enzymes and of diseases of metabolite repair
• Discovery of the mechanism explaining the neutropenia in glycogen storage disease type Ib and G6PC3 deficiency (with Maria Veiga da Cunha)

Question

What are the pathophysiological mechanisms explaining several inborn errors of metabolism ? How can this knowledge help us find adequate treatments?

Research focus

Inborn errors of metabolism are genetic diseases due to mutations in one of the many enzymes (probably more than 2000) involved in intermediary metabolism, i.e. the ensemble of all chemical reactions occurring in our cells. These enzymes are encoded by our genome.

Still many enzymes have no known function and it is extremely important to define this function. This involves studies on purified enzymes and on cell models in which these enzymes have been inactivated.

Emile Van Schaftingen was trained as an MD, and started doing research in the laboratory of HG Hers and Louis Hue while still a student. He developed his whole career at the ICP, now known as the de Duve institute.With his two mentors he discovered fructose-2,6-bisphosphate, a major regulator of glycolysis in 1980. In 1989, he discovered ‘glucokinase regulatory protein’, which confers allosteric regulation to a major enzyme in the control of glucose metabolism in humans. With his team, he elucidated several inborn errors of metabolism, including the deficiencies of phosphomannomutase (by far the most prevalent glycosylation defect) and of enzymes of serine biosynthesis (both with J Jaeken, Kuleuven); the causes of L-2- hydroxyglutaric aciduria and of glycogen storage disease type Ib. He discovered deglycation, a new protein repair process and identified numerous new enzymes involved in intermediary metabolism, including those that synthesize N-acetylaspartate, an abundant compound in brain, and carnosine, a very abundant histidine derivative in muscle. He was director of the de Duve institute from 2004 to 2019 and professor of biochemistry at UCLouvain till becoming emeritus in 2018.

Honors

• 1987 Merck Sharp and Dohme award
• 1992 Minkowski award (European Association for the study of diabetes)
• 2003 van Gysel award

Affiliations

• de Duve Institute