Motor neuron disease (MND) Research

Neurofilament heavy chain


Unravelling the biomarker and therapeutic potential of neurofilament heavy chain in MND

Professor Andrea Malaspina & Professor Giampietro Schiavo, University College London

Up to £50,000 | July 2023 - March 2024 |

Summary: Neurofilaments are proteins that have a key role in giving stability to motor neurons and in the transport of several factors from the cell body to the nerve ending. Neurofilament light (NfL), medium (NfM) and heavy (NfH) chains exist in a fine balance and this balance is essential to maintaining their role within motor neurons. It is believed that, in people living with MND, this balance is disrupted and more specifically, that an excess of NfH is linked to dysregulation of TDP-43, a pathological hallmark of MND that affects approximately 97% of people living with the disease. Professor Malaspina and his team are investigating whether modification of NfH expression in motor neurons reduces TDP-43 pathology.

Why this research is important: Understanding the potential link between NfH and one of the major pathological hallmarks of MND (TDP-43 toxicity) could open new therapeutic avenues for the treatment of MND. In addition, if a specific expression pattern of NfH is found in the motor neurons of people living with the disease, it could be used as a marker of disease progression.

Read more about Andrea’s project here.

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