The root cause of autism may have been found... and no, it's not vaccines

Scientists may have found the root cause of autism and, no, it's not vaccines. It is most likely caused by having too many brain connections called synapses, a new study says.

This effectively debunks a recent theory that had linked autism to vaccines. The poorly conducted study had suggested that aluminium contained in vaccine adjuvants could trigger biological responses in mice "consistent with those in autism", causing undue alarm among parents. 

It was later found that the study's data had been deliberately manipulated, copied and pasted, and generally faked, forcing the "researchers" to retract the study.

Autism Speaks Light it Up Blue Autism Awareness Celebration at Chicago Children's Museum on April 8, 2017 in Chicago. (Getty Images)

The new study, published in the journal Nature Communications, says that people with autism might have too many brain connections, causing communication problems in their nervous systems.

At the root of the issue is a malfunctioning gene within the brain cells called neurons. The RNF8 gene helps to regulate the connections between these neurons that allow communications to travel between them. When that gene is not working properly, too many synapses form and overload the system—they confuse the brain.

Autism Speaks Light it Up Blue Autism Awareness Celebration at Chicago Children's Museum on April 8, 2017 in Chicago. (Getty Images)

"An increased number of synapses creates miscommunication among neurons in the developing brain that correlates with impairments in learning, although we don’t know how,” senior author Azad Bonni, head of the Department of Neuroscience at Washington University School of Medicine in St Louis, explained in a statement.

The researchers saw this in action when they removed the RNF8 gene from rodents’ cerebellums, one of the regions of the brain that is affected by autism and a control center for a person’s motor skills and cognitive functions like language.

The findings suggest that malfunctions in communication between brain cells could be at the root of autism. (Washington University School of Medicine in St. Louis)

The neurons in those rodents created about 50 percent more working connections to other cells. According to the university, the scientists were able to measure the higher intensity electrical signal heading into cells when these connections were increased.

Although the rodents with the missing RNF8 gene did not experience motor issues, they had trouble learning new ones.

(Autism Speaks)

Autism spectrum disorder (ASD) is a common neurodevelopmental condition affecting one in 68 people in the United States. It's generally understood that there is a genetic aspect to ASD (it often runs in families), though environmental triggers may also play a role. Autism is characterized by social and communication challenges.

According to a report in the Medical Daily, among the many genes linked to autism in people are six genes that attach a molecular tag, called ubiquitin, to proteins These genes, called ubiquitin ligases, function like a work order, telling the rest of the cell how to deal with the tagged proteins: This one should be discarded, that one should be rerouted to another part of the cell, a third needs to have its activity dialed up or down.

Azad Bonni (WUSTL)

This isn’t the first time scientists have suggested a gene that could seemingly enhance brain power is related to autism. Earlier this year, a separate team wrote a paper explaining that the genetic mutations associated with the disorder may have been passed on through the generations—surviving an evolutionary process that is supposed to root out negative genes — because the same ones that cause autism also improved our cognitive abilities. Those researchers had seen an association between people carrying autism genes and bigger brains, enhanced sensory capabilities and better decision-making skills.

“It’s possible that excessive connections between neurons contribute to autism,” Bonni said. “More work needs to be done to verify this hypothesis in people, but if that turns out to be true, then you can start looking at ways of controlling the number of synapses. It could potentially benefit not just people who have these rare mutations in ubiquitin genes but other patients with autism.”

Autism Speaks Light it Up Blue Autism Awareness Celebration at Chicago Children's Museum on April 8, 2017 in Chicago. (Getty Images)

Did you know?

1. Autism now affects 1 in 68 children and 1 in 42 boys

2. Autism prevalence figures are growing

3. Autism is one of the fastest-growing developmental disorders in the US

4. Autism costs a family $60,000 a year on average

5. Boys are nearly five times more likely than girls to have autism

Autism Speaks Light it Up Blue Autism Awareness Celebration at Chicago Children's Museum on April 8, 2017 in Chicago. (Getty Images)

Possible signs of autism in babies and toddlers

1. By 6 months, no social smiles or other warm, joyful expressions directed at people

2. By 6 months, limited or no eye contact

3. By 9 months, no sharing of vocal sounds, smiles or other nonverbal communication

4. By 12 months, no babbling

5. By 12 months, no use of gestures to communicate (e.g. pointing, reaching, waving etc.)

6. By 12 months, no response to name when called

7. By 16 months, no words

8. By 24 months, no meaningful, two-word phrases

9. Any loss of any previously acquired speech, babbling or social skills

(Autism Speaks)

Possible signs of autism at any age

1. Avoids eye contact and prefers to be alone

2. Struggles with understanding other people’s feelings

3. Remains nonverbal or has delayed language development

4. Repeats words or phrases over and over (echolalia)

5. Gets upset by minor changes in routine or surroundings

6. Has highly restricted interests

7. Performs repetitive behaviors such as flapping, rocking or spinning

8. Has unusual and often intense reactions to sounds, smells, tastes, textures, lights and/or colors

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