New research has identified a genetic connection between myotonic dystrophy type 1 (DM1) and autism spectrum disorder (ASD). The study found that tandem repeat expansions (TREs) in the DMPK gene are responsible for disrupting gene splicing, leading to protein imbalances that interfere with brain development and function. Individuals with DM1 are at an increased risk of developing ASD, 14 times more likely than those without the condition.
The researchers discovered that TREs in the DMPK gene alter RNA binding proteins involved in gene splicing regulation during brain development. This leads to a protein imbalance, causing mis-splicing of other genes, which may explain the social and behavioral outcomes observed in individuals with ASD. The study provides new insights into autism’s genetic pathways and could inform future precision therapies.
The findings also suggest that TREs may be contributing to the development of ASD-like symptoms in children with DM1. Researchers are now exploring whether this mis-splicing is happening in other genes associated with ASD, as well as how their findings could inform precision therapies that release proteins absorbed by toxic RNA caused by TREs.
Source: https://neurosciencenews.com/tre-asd-genetics-28677