As research on the cause of Autism continues, new findings have emerged linking it to a rare inherited condition called myotonic dystrophy type 1 (DM1). This discovery, made by a team of scientists from UNLV, was published in the prestigious journal Nature Neuroscience.
For those unfamiliar with DM1, DM1 is a hereditary disorder affecting muscle function. The team discovered that a person with DM1 is 14 times likely to be Autistic. It turns out that the mutation process that causes DM1 is the same that disrupts normal brain development and contributes to the development of ASD-related traits.
TRE, causing DM1
As far as DM1 is known, the TRE, the abbreviation for transcriptase expansion repeats, is a common genetic abnormality found in individuals with DM1. These TREs can cause disruptions in brain development and interfere with the crucial biological process of gene splicing. This disruption can lead to an imbalance in protein production and widespread mis-splicing of several genes, thus, resulting in molecular changes that cause Autistic Traits.
According to Dr Yuen Ryan, a prominent researcher in Genetics and genome Biology at SickKids, uncovering the molecular pathway associated with this correlation could potentially pave the way for further investigations into novel methods of diagnosing Autism Spectrum Disorder (ASD) and creating personalized treatments that restore these proteins to their rightful place within the genome.
DM1 link to Autism
As mentioned earlier, the genetic mutation that causes DM1 is tandem repeat expansions (TREs), which also play a role in other neurological disorders such as autism. TREs have been found in over 2,588 different areas of the genome, specifically in individuals with autism. They occur when a repeated DNA sequence expands to an abnormal length, disrupting the normal function of genes and potentially leading to various symptoms.
Further investigation is currently necessary to determine the potential applications of this discovery in treating other disorders. However, the researchers are hopeful that their findings will pave the way for future advancements in treating Autism.
Support, resources, and education
At Nevada Autism, our mission is to ensure that individuals with Autism Spectrum Disorder (ASD) and their families receive the support, resources, and education they need to thrive. We also provide diagnosis, therapy, and educational programs tailored to each individual’s unique needs.
Collaboration is at the core of our practices. We work closely with families and other professionals involved in the individual’s care to develop comprehensive treatment plans. Together, we can help individuals with ASD reach their full potential and thrive in all aspects of their lives.
