Fragile X syndrome Can Be a Reason Behind Autistic Disabilities

Fragile X syndrome Can Be a Reason Behind Autistic Disabilities

As we know the psychiatric disorder, autism, is a genuine issue of present days unlike many other neurological as well as mental retarding diseases, so we need to focus on finding out the key to cure this brain disease.

The reason behind the uniqueness of autism stands on some factors.

Autism does not come with a single disorder or symptom, but it occurs with multiple disorders. That's the reason why autism is called as ASD (Autism Spectrum Disorders).

Next but more important point is that, after nine years of long research, it is found that autism is a pure genetic disease.

The point which is last but not the least is, although it is found incurable because of its genetic issues, but autistic impairments can't be ignored. If it is not diagnosed at the early stage, then at the late adolescence stage this brain disease can turn into another neurological disorder. For example, in most of the cases, epileptic symptom is also added to the autistic symptoms at the later stage, if autism is not diagnosed or treated early.

The points discussed above are not to ignore, because autism is spread all over the world according to the current and old CDC data reports.

So, we need to find out the key as soon as possible to cure this genetic neurological disorder. As we know autism is very genetic, so we need to study by following the same way. Researchers found over 500 genetic variants responsible for autism, but these variants are not identical to cause this brain disease in all autism diagnosed patients.

Knowing all these things, geneticists are carrying on their research and are getting some points, which does include something new with their old findings. This study is a total mixture of study of proteins and genomic, which we are going to discuss.

Study: It was a study where another syndrome, the fragile X syndrome was found as a reason behind autism spectrum disorders. The study was conducted by taking two groups of mice, where one group was with fragile X syndrome and the another group was of control or healthy group.

First we need to know, what is fragile X syndrome?

Fragile X syndrome is caused by polymorphism of CGG trinucleotides at the untranslated region of X chromosome linked FMR1 gene, which results in suppression of FMR1 gene expression or translation. This leads to decreased level of FMRP protein.

The decreased level of FMRP is directly proportional to an increased level of Kv4.2 protein, which is responsible for the flow of ion channels (potassium ion channels) to regulate the neuronal signal transduction.

Low FMRP ----> Increased Kv4.2 protein ----> deregulate potassium ion channel -----> Autism like symptoms

Observation: The mice with low FMRP (with high Kv4.2) and the mice with half of Kv4.2 had gone through a variety of behavioural tests to see if there was any difference or not. It was seen that the mice with low FMRP or high Kv4.2 (fragile X mice) were slow enough to communicate with each other by ultrasonic vocalizations, and they were very tend to do repetitive behaviour than the mice with half of Kv4.2. The mice with half of Kv4.2 protein were more normal than the group of fragile X mice.

So, it is concluded that the patients with fragile X syndrome are more susceptible to autism.

This genetic polymorphism can be transferred from parents to their child with more repetition of CGG trinucleotides, so it can be a diagnostic parameter. The parents can be alerted and take precaution before their child is born.

But if there is no solution and no cure, then the whole information seems like useless. As gene therapy is not so easy and costs more, so HBOT with specially designed hyperbaric chambers can help us to treat autism. This therapy does not follow the genomic path but it works at the cellular level of impaired neuronal tissues.

The supplied oxygen at high atmospheric pressure in the specially designed hyperbaric chambers personal-hyperbaric-chamber... can dissolve more oxygen in the blood of autistic individuals. More oxygenated blood deals with the impaired brain tissues to improve the social skill abnormalities associated with the autistic disorders.

Last edited by