The Role of Significant Genetic Mutation in Autism

The question that which factors contributes to autism is still not solved by the scientists. Presently, another examination led in mice and from surveys conducted amongst people indicates that an exceptional hereditary transformation may assume to play a vital role in early mental health, adding to autism.

Autism — which researchers and healthcare professionals frequently allude to as autism spectrum disorder (ASD) — is distinctive for various people, and its characteristics usually appear in adolescence.

Experts believe autism to be a “developmental disorder,” and autistic people may have various encounters as far as identifying with other individuals; they may adapt diversely and take part in similar activities.

The level of difficulty for these traits depends from individual to individual as it may be beneficial for some and maybe act as an obstacle while interacting with others. To cater to the issue of self development, some health care professionals suggest various strategies like being a part of cognitive behavioral therapy (CBT) or training involving social skills while others pick medications such as antidepressants and anxiolytics to cope.

Even though, 1 in every 160 children is diagnosed with autistic  the cause of existence of such traits is still unknown. A recent research conducted in the University of North Carolina (UNC) School of Medicine, it has been suggested that autism may occur as a result of genetic mutation during the preliminary development of cerebral cortex. The research included mouse as models and data obtained from humans and is present in the journal Neuron.

According to the senior author Prof. Eva Anton, the study concluded that early disturbance during the formation of cerebral cortex can be the cause of ASD.

A Genetic Key to Primary Brain Development

The reason why cerebral cortex was the prime focus of the research is that is the centre of the brain where complex functions such as speech, memory and consciousness are controlled. While the process of development of cerebral cortex is still not fully determined, it is yet known that radial glial cells which later differentiate to become specialised cells are responsible for the primitive development of cortex.

In accordance to the latest animal research, the researchers at UNC determined a gene Memo1 which disturbs the pattern, basal functioning and early organization of radial glial cells. Even though it is found out that mutation in MEMO1 is occasionally correlated for autism, it is still unknown whether it is responsible for the manifestation of the condition.

Currently, Professor Anton and team is conducting a research regarding the deletion of Memo1 gene in mice during the primary development of cortex to understand whether this would have any influence on the brain or nor. As a result, a disturbance in the pattern of radial glial cells was observed which is supposedly controlled by the Memo1 protein. It was also discovered that without the Memo1 protein various structures branched out from the radial glial cells and changed the positioning of the cells and lead to designation of many cells in the wrong position.

Genetic Mutations in Humans

If was noted by the researchers that similar disorientation of neural cells was found in the brains of autistic children. During the observation of mutation of MEMO1 gene in such individuals, it was revealed that encoding of a shortened form of MEMO1 protein occurred due to genetic mutation which authors describe as “results in functional loss of Memo1” and influenced the development of the neural cells.

As a result, Professor Anton came to the conclusion that to understand the disorders in brain development, it is necessary to study the root cause even if it is presently not related to the disturbances as this would help in determining better diagnostic strategies to cope with it.