Funded Research Projects


Dysfunction of Macrophages in Spinal Muscular Atrophy (SMA)

Principal investigator(s):
Prof. Dr. Peter Claus
SMATHERIA gGmbH, Hannover, Germany
Grant Type:
Operating Grant
Start Year:
1 year
Call number:

Prof. Dr. Peter Claus

Professor Peter Claus is the co-founder and Head of SMATHERIA gGmbH in Hannover, Germany, a non-profit biomedical research institute dedicated to preclinical and translational research on spinal muscular atrophy and other neuromuscular diseases. He was awarded an SMA Europe grant to determine the role of SMN in macrophage differentiation and cytokine expression, as well as in surfactant clearance in lungs of SMA mice. 

In Focus


Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by a lack of the Survival of Motoneuron (SMN) protein. Since the advent of SMA treatments, people with SMA survive and the manifestation of the disease has shifted from a predominantly neurodegenerative disease to a multi-system condition. The immune system appears to be dysregulated in multiple organs and seems to contribute to a peripheral manifestation of SMA. The identification of underlying immune system-associated cellular mechanisms has been largely neglected.

Professor Claus’ early data suggests that in mice with a condition similar to SMA, certain immune system cells in the lungs called alveolar macrophages, change both in shape and in the molecules they produce. Additionally, the cells lining the air sacs in the lungs interact with these macrophages and abnormalities have been found in the substances they secrete even before symptoms appear in SMA mice. This suggests that there is a disruption in how the lung functions and how these cells interact. 

What is Professor Claus proposing to do and why?

Professor Claus and his team will determine what these immune system related defects are in SMA, focusing specifically on macrophage functions in different SMA model systems. Macrophages play important roles in the immune system and their functions are influenced by various factors like signals from other cells, changes in their structure and the environment they are in.

Through this project, the team will seek to understand how the loss of SMN protein affects the development of macrophages in the lungs, as well as the production of signalling molecules called cytokines. The team will also investigate how well these cells clear a substance called surfactant from the lungs of mice with SMA, ultimately to understand how this impacts overall lung function.

Why is it interesting to patients?

This project is interesting to patients because it will show how SMN loss affects lung function and lead to the identification of potential treatments that can address these effects, especially those that aren't currently targeted by existing therapies.