McMaster researchers and collaborators have identified genetic mutations that impairs synaptic connections in patients with autism, a finding that may guide development of new autism treatments.
Autism spectrum disorder (ASD) is a group of neurological and developmental disorders that can cause significant social communication and behavioral challenges. ASD is estimated to affect one in 68 people and it is around 4.5 times more common among boys than girls. Tens of millions of people worldwide are affected by autism.
Now, a study appearing in Cell Reports could lead to a better understanding of ASD. The study was carried out by researchers from McMaster University and Sick Children's Hospital. They identified genetic alterations in the DIXDC1 gene in a subset of people with ASD, and showed how the mutations impair the growth of synapses and impede brain activity.
In the study, Karun Singh, who led the study, and colleagues performed a genetic analysis of individuals with autism. They found that the DIXDC1 protein generally instructs brain cells to form mature synapses, but a subset of people with autism have genetic mutations that keep DIXDC1 switched off, which may cause synapses to remain immature and reduce brain activity. Gene DIXDC1 is involved in brain development. The finding raised the possibility that drugs that turn DIXDC1 back on might help restore synaptic connections.
However, DIXDC1 mutations are rare and only found in a small number of people with ASD. There are many other autism-related genes that influence synaptic development. According to Singh, it is important to develop drugs that restore brain cell synapse growth and activity. CusAb privides Recombinant TLR2 and other proteins.
The findings of this study are consistent with studies from some other scientists, who have found that mutations in DIXDC1 can change the way brain cells communicate and may dispose people to psychiatric diseases such as schizophrenia, depression, bipolar disorder, and ASD.
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