Gene Mutations After Conception Play a Key Role in Autism, Study Finds

Researchers and physicians have been trying to determine what exactly causes autism for many years. Although the number of documented cases of autism has continued to rise in the United States, and although there has been an increasing amount of information uncovered about the condition in recent years, there still isn’t a confirmed set of factors that can be identified as the cause of autism. While this problem certainly has yet to be solved, recent studies exploring genetic variations in autistic and non-autistic individuals have brought to light new insights about the condition.

There has been a lot of research going on in the field for several years to determine the exact reason behind autism. In the United States alone, autism has shown to be on the rise. Even though there has been an increase in the amount of information discovered about this medical condition, there are still no known factors that can be identified as the root cause of autism. Two of the recent studies which were completed by a team had begun to explore in depth the relationship between genetic mutations and autism. This research focused on various parts, such as examining the genes of the individual, but at the same time, the team was trying to understand the relationship at the micro level.

The main purpose behind studying this relationship is to help doctors provide an earlier diagnosis of this condition. Most autism symptoms are at the behavioral level, which cannot be seen until the child is older. The earlier diagnosis and treatment are carried out, the better it would be for them in the long run. If the researchers were to discover a certain kind of pattern at the genetic level, it would make it easier for doctors to diagnose this condition at an earlier stage. Genetics is seen as a continuously evolving field.

The research team had also studied something known as de novo mutations. These are essentially a new mutation, or those mutations which can occur once the child has been conceived in the womb. A mutation is known to occur in the sperm or the egg cell before it is fertilized, or they can also occur after fertilization, in the embryonic cell. Mutations which are known to occur after the fertilization process are called post-zygotic mutations, or PZMs. These PZMs are known to be the ones responsible for any kind of development-related disorder in the brain. Autism is one such disorder which can also occur due to PZMs, but they are also known to cause schizophrenia, epilepsy attacks, and other cognitive-related malformations. It was determined in the research that those individuals who suffer from autism are also affected by PZMs, which mostly manifests in the form of an altered amygdala as compared to those who do not have autism.

The study has suggested that autism is very difficult to predict, but the research also gave an indication as to which part of the brain was affected due to autism. Thanks to the numerous studies that have been carried out, new insights have been revealed in terms of genetic variations between individuals with or without autism, but the studies are unable to pin down anything solid as to what could be causing autism. These genetic variations can be helpful to a certain point for describing the difference between those with and those without autism.