Understanding genetic variations in different tissues of people with DM1

DM1 is a genetic condition caused by a small part of the DMPK gene being expanded in cells. This expansion contains a repetitive sequence present in all cells of the body, which means that DM symptoms are seen in many different parts of the body, including skeletal muscles that help us move, the heart and brain. 

Genes generally work in partnership with other genes, with instructions being passed down the pathway to ensure that everything within cells and tissues works correctly. However, in DM1 the expanded repetitive sequence cannot be processed like other genes, which makes it toxic for the cells, leading to the symptoms experienced by people living with DM1.  

Using new technologies, researchers can now study the amount of different genes within cells and look at how these genes communicate with each other within a pathway. Importantly, researchers can compare DM1 and non-DM1 samples to understand key changes and look at how these differences may be related and contributing to the condition – they can also study these connections within individual cells.

The researchers aim to use muscle, heart and brain tissue from mice that have the same genetic changes as people living with DM1 and process them using a new technology called single–cell transcriptional profiling. They will compare these to the tissue of mice that don’t have the genetic changes that cause DM1 so they can identify clear similarities and differences between the samples.  

The results from this study should help us understand myotonic dystrophy and what happens inside the tissue at a very detailed, molecular level. The results should highlight which potential genes could be targeted for treatments.