Closer to ALS cure with new gene expression atlas

Published: 2019-04-09


In a novel study, published in Science and co-led by Joakim Lundeberg (SciLifeLab/KTH), an approach known as Spatial Transcriptomics was used to map gene expression of nearly 12 000 genes during early onset and progression of the neurodegenerative disease ALS. The findings will be useful in searching for a cure, better diagnostics and in creating similar maps for other progressive neurodegenerative diseases like Alzheimer’s, Parkinson’s and Huntington’s disease.

In amyotrophic lateral sclerosis (ALS), motor neurons in the brainstem and spinal cord suffer progressive degeneration causing paralysis and subsequently death. The average life expectancy is two to five years after diagnosis and not much is known about the underlying molecular mechanism which could prove to be vital in the search for a future cure.

In the study, Spatial Transcriptomics, a technique that allows visualization and quantitative analysis of the transcriptome (all expressed genes) in tissue sections without having to extract cells from their biological context, was used. The technology has been developed by researchers at SciLifeLab, KTH Royal Institute of Technology and Karolinska Institutet.

Data was collected from four different time points during ALS progression in a mouse model as well as from post mortem human spinal cord tissue samples. With the help of novel computational methods, the researchers were able to create a detailed map (atlas) over the interactions between different types of neuronal and non-neuronal cells, and found out how the disruption of those interactions might cause motor neuron loss.

“This could serve as a starting point for further mapping of other progressive neurodegenerative diseases like Alzheimer’s, Parkinson’s and Huntington’s disease”, says Joakim Lundeberg who is also one of the developers of Spatial Transcriptomics, in a press release from KTH.

All the data from the study is now available to other researchers via an interactive data exploration portal.