Vincent Timmerman Lab

Research focus

The peripheral nervous system (PNS) exchanges motor, sensory and autonomic information between the central nervous system (CNS) and the limbs, organs and tissues. A series of biological and environmental conditions, such as genetic mutations, chemical stress, infections or metabolic insults, can lead to axonal loss and demyelination, the pathological hallmarks of peripheral nerve degeneration. Moreover, degeneration of peripheral nerves is accompanied by a local activation of the immune system.

The Peripheral Neuropathy Group aims at understanding the delicate balance between peripheral nerve homeostasis and degeneration by using two paradigms:
     1. How do genetic mutations lead to peripheral nerve degeneration, and
     2. What is the role of the innate immune system in nerve protection?

Inherited peripheral neuropathies (IPN) are caused by a length-dependent degeneration of peripheral nerves, resulting in progressive weakness in the limbs, wasting of foot and hand muscles as well as distal sensory loss. Charcot-Marie-Tooth (CMT) disease is the most common IPN with a prevalence of 1/2500. Over the years, our lab has become one of the main CMT research centers in the world; overall, 1/4 of the 60 IPN disease causing genes were found within our team or via international collaborations. Not surprisingly, many of these genes encode proteins that are involved in myelination and maintenance of the peripheral nerve. However, also ubiquitously expressed genes with basic tasks in every cell were found to specifically cause peripheral nerve degeneration.

Since the identification of a disease-associated gene is only a first step in unraveling the disease pathomechanism, we wanted to go further and aim to understand the functional consequences of the pathogenic mutations. We chose to focus on ubiquitously expressed genes that our lab identified to be causative for CMT. We aim to unravel the unique properties of these proteins in peripheral nerve biology as well as explore how these properties are affected upon mutation. To this end, we developed cellular (sensory and motor neurons or Schwann cells) and animal model systems. We are not only investigating the impact of disease-causing mutations on the well established functions of these proteins, but additionally try to identify novel (potentially neurospecific) pathways in which these proteins might be involved by undertaking large scale approaches. Our ‘gene-driven’ approach is further complemented by a second research line, which aims to identify the role of the innate immune system in neuroprotection and -degeneration. Understanding how this balance is controlled might allow us to fine-tune or even stimulate an inherent neuroprotective response.

We strongly believe that our research strategy can contribute to the development of novel treatment strategies for CMT patients. The on-site interaction between neurologists, molecular geneticists and cell biologists places our lab in a privileged position: it ensures access to patient material, and also allows us to couple back our findings in the lab with clinical data. We also maintain contacts with the International CMT Consortium by co-organising meetings and workshops.


Mitochondria-associated membranes as hubs for neurodegenerationKrols Michiel Van Isterdael Gert Asselbergh Bob Kremer Anna Lippens Saskia Timmerman Vincent Janssens SophieACTA NEUROPATHOLOGICA, 131, 505-23, 2016
Nlrp6 promotes recovery after peripheral nerve injury independently of inflammasomesYdens Elke Demon Dieter Lornet Guillaume De Winter Vicky Timmerman Vincent Lamkanfi Mohamed Janssens SophieJournal of Neuroinflammation, 12, 143, 2015
Recent advances in Charcot-Marie-Tooth diseaseBaets Jonathan De Jonghe Peter Timmerman VincentCURRENT OPINION IN NEUROLOGY, 27, 532-40, 2014
Human Rab7 mutation mimics features of Charcot-Marie-Tooth neuropathy type 2B in DrosophilaJanssens Katrien Goethals Sofie Atkinson Derek Ermanoska Biljana Fransen E Jordanova Albena Auer-Grumbach M Asselbergh Bob Timmerman VincentNEUROBIOLOGY OF DISEASE, 65, 211-9, 2014

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HSAN 1: identification of new mutations can lead to more accurate diagnosis and improved genetic counseling

08/10/2010 - VIB researchers have identified new mutations linked to HSAN 1, a rare genetic disorder of the peripheral nervous system. This can lead to a more accurate diagnosis of the disease.

Fruit fly steps in to fight human disease

22/06/2009 - VIB scientists have successfully introduced genes coding for a variant of the Charcot-Marie-Tooth (CMT) disease, into fruit flies.

Research simplifies diagnosis of Charcot-Marie-Tooth disease

24/07/2006 - Researchers from the Flanders Interuniversity Institute for Biotechnology (VIB) connected to the University of Antwerp are now demonstrating that mutations in mitofusin 2 are the major cause of CMT2, a specific type of the disease

A crucial step in combatting Charcot-Marie-Tooth neuropathy

02/02/2006 - Scientists have taken a crucial step in unravelling the molecular mechanism behind the Charcot-Marie-Tooth (CMT) disorder, which is a disease of the nervous system that leads to muscular atrophy

Defect in gene causes 'Neuralgic Amyotrophy'

25/09/2005 - Researchers from VIB connected to the University of Antwerp, have uncovered a small piece of the molecular puzzle of this disease by identifying the defects in the gene responsible for this disorder.

Closing in on treatment for Charcot-Marie-Tooth disease

06/05/2004 - Charcot-Marie-Tooth is a hereditary disorder of the peripheral nervous system that strikes 1 person in every 2500. Now, researchers from VIB have discovered that two small 'heat shock' proteins turn out to be crucial.