Medical Express reports that genes are important especially if it’s related to the development of life. This is something that’s considered essential for human survival. It lets humans thrive even while still inside the womb.
However, new findings suggest that it may be related to the progress of autism. Geneticists from Penn Medicine published the results from the Proceedings of the National Academy of Sciences.
Essential Gene’ Mutation Tied To Autism
Genes known to be essential to life—the ones humans need to survive and thrive in the womb—also play a critical role in the development of autism spectrum disorder (ASD)… Read more…
Science Daily says that the analysis was done by using the genetic samples from 1,700 families. The results revealed high levels of mutations found in “essential genes.” It was linked as well with an increased risk for ASD and decreased social skills.
The authors said that brain functions are sensitive to any alterations or mutation accumulation. In order to understand this occurrence, identifying the genes that have a behavioural effect may help in determining why an individual develops such conditions.
Genetic Mutation Tied To Autism
An analysis of genetic samples of over 1,700 families from a repository revealed that elevated levels of mutations in the “essential genes” was significantly associated with an increased risk for ASD and decreased social skills. Read more…
Neuro Science News says the results of the researchers’ work confirms previous mouse model studies that one third of genes are essential to life and possibly connected to human disease.
Siblings with ASD showed increased levels of damaging mutations in essential genes compared to non-affected siblings. Maja Bucan, PhD, explains that this makes it challenging for them in terms of treatment. However, the results were significantly important in understanding the condition.
Gene Mutations Tied to Autism
The findings suggest that ASD stems from an aggregate effect of many damaged essential genes that “work” together during the early stages of development in the womb, as soon as eight weeks after conception. ASD is what’s known as a polygenic disease, the authors said, where many small gene effects contribute to a disorder. Read more…
These findings can potentially add to the increasing body of knowledge about the disease. Not only that but it also includes effective treatment for such conditions.
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