Epilepsy Research UK

Why Are The Genome Sequences in Modern Humans Found Responsible for Autism?

Why Are The Genome Sequences in Modern Humans Found Responsible for Autism?

More or less we all heard of autism, and many of us have faced it. In few words autism is a neuropsychiatric disorder but the story of autism is not ended like this. Autism is a mental or neurological disorder which is strongly genetic, that's the reason why autism is incurable still now, though it can be manageable to some extend.

Nine years long research has been done on this topic to know how autism is linked to the human genome. The result comes with a discovery of several genetic bio-markers, responsible for autism.

Autistic Symptoms to Diagnose at the Early stage:

Autism is also termed as ASD (Autism Spectrum Disorders), because autism comes not only with a single disorder. It occurs with disorders of impaired social activities.

# Lack of verbal communication

# Stereotyped behaviour

# Lack of eye contact

# Repetitive behaviour

# Learning disabilities

# Cognitive disabilities


So, early diagnosis at the early stage (at childhood) of autism or ASD can help to take the control over it. Childhood autism diagnosis is important to improve these disorders, because it is found that, at the later stage autistic symptoms are turned into other neurological disorders like epilepsy.

Now we need to focus on, how to reduce the autistic disabilities.

To know about reducing autistic disabilities, we need to go through the deep root of autism. The geneticists already have gone through the deficit of autistic human genome, which results in finding of new reasons for autistic disabilities.

Apart from wrong genomic expressions to lead the abnormal proteins, a segment of DNA is found duplicated or deleted in the autistic patients.

Study to find out, Genome Variation is Responsible for Autism:

A study was conducted at the university of Washington, where researchers studied and compared the genomes between the 2,551 modern humans (us) and 86 apes along with 1 Denisovan and 1 Neanderthal. According to a special region of the human genome examined, the result came with an interesting data which said that, a part of human chromosome (chromosome 16 or 16p11.2 ) was found changed. The DNAs of this section were found duplicated or deleted.

The study author Xander Nuttle, BSE, BS, graduate student in the Department of Genome Sciences at the University of Washington School of Medicine stated, "When we compared the genomes of apes and humans, we found that the humans had evolved complex structural changes at 16p11.2 associated with deletions and duplications that often result in autism. The findings suggest that these changes emerged relatively recently and are unique to humans,"

So the genome disorder is unique for humans. The researchers and geneticists also believe that the change is contributed to the formation of novel gene/s like BOLA2. It (BOLA2) is found 2 copies in Denisovans, apes and Neanderthals, where in case of modern humans or people with autism have 6 copies in average.

The autism affected people are diagnosed with the duplicated genome sequences, which is termed as CNV (Copy Number Variation), but it is under study that, why do the people with no autistic symptoms and people with autism have the multiple copy of BOLA2 (the novel gene)?

"Another question we are exploring is why people with the same duplications and deletions at 16p11.2 vary in disease severity," said Mr. Nuttle.

It is under study to find out the actual reason behind it, but as it is said before that we need to focus on how to reduce the autistic disabilities, so several therapies, interventions are used to reduce this brain disorder as soon as possible.

Behavioural interventions like ABA (Applied Behavioural Analysis) is used, but HBOT (Hyperbaric Oxygen Therapy) is an innovative one to reduce the autistic disabilities using the oxygen therapy personal-hyperbaric-chamber...

Different hyperbaric chambers with flash through system are designed for the autism or ASD affected people. More supply of oxygen at the high atmospheric pressure in the chambers can restore the impaired neurons to some extend. Rapid and frequent sessions of HBOT under supervision of paediatrician or a recommended doctor is needed to improve the autistic disabilities.

7 Replies

I have had epilepsy for 41 years and run a Page on Facebook for epilepsy! I would love to share this if permission is granted! If all in order, kindly send me a link to facebook.com/lesmal! This would be greatly appreciated and I am sure this information would be loved! Thank you! Les



I am very glad that you like it.

But sorry, I can't find your face book page. Does it exist?

Anyway, yes you can share this. In-fact I post it here with a purpose that everyone knows the autism factors.

But credential will be of mine. That means, Don't change the link and author credential.

Otherwise, it's okay. And please check the face book link, it is not opened and opened as a broken page.

After sharing please provide me that link.

These is my face book profile facebook.com/deepraj.das.52


Deepraj Das

(M.Sc Biochemistry)


Facebook link for me is: facebook.com/lesmal


Please send me a personal friend request on Facebook before any using of links is concerned. I look forward to hearing from you! Thank you! Les


I have sent you my face book link too. Please check my last reply. You may send me request too. No problem!


Sent you a Friend Request on Facebook! - Lesley Donnelly


okay..I will accept it later after 2 hours. you can check my articles on my timeline.