Prof. Thorsten Hornemann

Institute of Clinical Chemistry, University Hospital,

Zurich, Switzerland

Abstract:

Sphingolipids play a critical role in the pathophysiology of nerve disorders including leukodystrophies, the Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1), Amyotrophic Lateral Sclerosis (ALS) and the Diabetic Sensory Neuropathy.  They modulate cellular signaling pathways, which are crucial in maintaining neurological functions. Sphingolipids are essential for myelin sheath integrity and nerve function and influence pain perception pathways and neuronal inflammation, exacerbating neuropathic symptoms. Alterations in their metabolism can result in demyelination and axonal degeneration.

HSAN1, a rare genetic disorder, directly links to mutations affecting sphingolipid metabolism, which disrupts nerve structure and function, leading to sensory loss and autonomic dysfunction. HSAN1 is clinically similar to the diabetic sensory neuropathy, a common complication of diabetes and as well associated with imbalances in the sphingolipid metabolism, which contributes to nerve damage and pain.

Targeting sphingolipid metabolism therefore offers a promising therapeutic approach to stabilizing myelin and mitigating neurodegeneration in peripheral nerve disorders.

Biography:

Dr. Thorsten Hornemann is professor for clinical chemistry at the University of Zurich where he leads the lipidomics facility. His primary interest is the sphingolipid metabolism and sphingolipid-related pathologies. His contributions encompass the development of advanced mass spectrometry based analytical methods and metabolic labeling techniques, which have been crucial for investigating the structure, function, and metabolism of sphingolipids.

His work also involves establishing novel lipid metabolites and lipid-based metabolic signatures as diagnostic and prospective biomarkers in context of metabolic diseases. One of his major achievements includes the discovery and characterization of 1-deoxySphinglipids a class of atypical and neurotoxic sphingolipids, which have been pivotal in understanding the pathogenesis of the Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1) and the diabetic sensory neuropathy.

His work has significantly contributed to the role of sphingolipid in this condition, highlighting the importance of these lipids on nerve damage and pain perception pathways.