Abstract

Lysosomes are the recycling centres of the cell. They are also calcium signalling organelles that cross talk with other calcium stores, including the ER. Dysfunctional lysosomes can cause severe human diseases. We have had a long-term interest in understanding and treating lysosomal storage diseases, a group of inherited metabolic diseases typically characterized by severe pathology in the brain. These diseases are caused by inherited mutations in genes that encode lysosomal enzymes, and non-enzymatic membrane and soluble lysosomal proteins. They occur at a collective frequency of 1:5000 live births and typically present in infancy or childhood, but adult-onset variants also occur. The majority of these diseases lack specific disease modifying therapies. We have been studying a subgroup of these disorders (called glycosphingolipid storage disorders) for many years, including Gaucher, Fabry, Tay-Sachs, Sandhoff and GM1 gangliosidosis. In addition, we have a major interest in Niemann-Pick type C disease, which involves secondary storage of glycosphingolipids. The underlying disease mechanisms remain incompletely understood and new therapies are urgently needed. We were involved in the pre-clinical development of the substrate reduction therapy drug miglustat, that is approved for both type 1 Gaucher disease and Niemann-Pick type C.

Our current interests are in four main areas:

• Lysosomal storage disorders, pathogenesis and therapy
• The effects of lysosomal storage on the immune system
• Development of biomarkers for monitoring storage disease patients
• Lysosomal dysfunction in more common diseases

Selected literature

Platt et al. 2018 Lysosomal storage diseases. Nature Reviews Disease Primers 4, 27.

https://www.nature.com/articles/s41572-018-0025-4

For all of Fran's publications, see

https://www.ncbi.nlm.nih.gov/pubmed/?term=platt+fm[au]

Invited by

Invited by Franck Pfrieger (fw-pfrieger@gmx.de)

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Comité d'Animation et de Communication  Scientifique de l'INCI
Marie-Pierre Laran-Chich, Etienne Challet, Sylvain Hugel & Stéphane Gasman