Could Epigenetics be the solution to Autism?


DNA and AutismDNA is like an instruction manual in creating all parts of our body. It sounds pretty simple, the body just follows these instructions and we grow and develop based on DNA, right? Only halfway right.

The DNA portion of the markup is unchangeable. It’s a firm plan. The DNA in our bodies are wrapped around Histones, a protein. Attached to the histone and DNA are other chemical tags called Epigenomes. While DNA itself isn’t able to be changed or modified, epigenomes are reactive based on external factors like diet, stress, and environmental factors. The epigenome adjusts genes based on what we are subjected to around us.(1)

It is widely believed that Autism Spectrum Disorders are genetic. However, there is also reason to believe that some of the factors of how the disorder affects someone can be traced to epigenomes, and how environmental elements affect them.  There are several chromosomes that have been traced to cases of Autism. (2)

Studies suggest that there is a connection between Autism / ASD and the chromosomes 15Q, 7Q, and X.

Duplications of chromosome 15Q (11-13) are commonly recurrent cytogenetic aberration associated with ASD. This occurs in 5% of patients with Autism Spectrum Disorders. The 15Q (11-13) chromosome is responsible for normal neurodevelopment.  The duplication of this chromosome is dependent on which parent the allele is derived from. Duplications in the maternal copy of this chromosome have been found to result in more cases of Autism. Overexpression of maternal genes is believed to be a cause of Autism. (2)

With chromosome 7, it has been found that changes in the number or structure of chromosome 7 (We normally have 2 copies of this chromosome), can causes delayed growth, mental disorders, and delayed speech. (3)

In the case of the x-chromosome, it’s important to note that there is a distinctive gender bias when it comes to Autism. There are 4 times as many males affected by Autism/ASD than there are females.

Based on the results of a study on females with Turner syndrome, a hypothesis involving epigenetic mechanisms was proposed to help describe the gender bias of ASD. Turner syndrome patients have only one X chromosome which can be either maternal or paternal in origin. When 80 females with monosomy X were tested for measures of social cognition, the patients with a paternally derived X chromosome performed better than those with a maternally derived X chromosome. Males have only one X chromosome, derived from their mother. If a gene on the paternal X chromosome confers improved social skills, males are deficient in the gene. This could explain why males are more likely to be diagnosed with ASD. (4)


(2) Schroer R.J., Phelan M.C., Michaelis R.C., Crawford E.C., Skinner S.A., Cuccaro M., Simensen R.J., Bishop J.,  Skinner C.,  Fender D., et al. Autism and maternally derived aberrations of chromosome 15q. Am. J. Med. Genet. 1998;76:327-336.
(3) Schanen N. C. (2006). “Epigenetics of autism spectrum disorders”. Human Molecular Genetics 15: R138–R150.
(4) Skuse, D.H., James, R.S., Bishop, D.V., Coppin, B., Dalton, P., Aamodt-Leeper, G., Bacarese-Hamilton, M., Creswell, C., McGurk, R. and Jacobs, P.A. (1997). “Evidence from Turner’s syndrome of an imprinted X-linked locus affecting cognitive function”. Nature 387 (6634): 705–708.

Can Jellyfish Proteins Alleviate Autistic Speech Problems?


Current research on Autism has been making great strides, and a new weapon in the fight against the syndrome is currently under consideration; the possibility that certain proteins derived from jellyfish can possibly alleviate some of the speech problems associated with the condition.

This possible treatment did not come from the usual sources delving into Autism, but rather from researchers focusing on a different syndrome… Amyotrophic Lateral Sclerosis, more commonly known as MND or Lou Gherig’s Disease. One factor of this disease is faulty calcium regulation in the brain, leading to a state of elevated concentrations that damage neurons – and researchers have found that certain jellyfish proteins, specifically apoaequorin, can act as a buffer and reduce the effects of ALS.

One pharmaceutical company attempting to bring such a treatment to market has produced a drug that has shown great promise. Initial research into Prevagen has shown that it can improve memory in subjects, specifically in the areas of learning and word recall, as well as aiding in sleep. Though research into the drug/protein’s impact on ALS can only be called anecdotal at this point it has been reported that, while not halting the progress of the disease, patients who received apoaequorin evidenced progression rates much slower than their counterparts who did not receive the treatment.

At this point there are no studies into the impact of apoaequorin/Prevagen on Autism, but anything that would help protect a patient’s motor neurons from a neurological disease is definitely something to explore!

Maternal Obesity, Diabetes Linked to Autism, Other Disability

??????????????????Overweight mothers with either Type 2 or gestational diabetes may be more likely to have a child with autism or with other developmental disabilities according to a recent study conducted by the University of California – Davis. Because nearly one-tenth of pregnant women have a form of diabetes and one-third of women of childbearing age are obese, these findings could represent a significant risk for the health of the fetus.

Theories about how the disabilities develop include the idea that elevated maternal glucose levels leads to fetal overexposure to insulin as well as the possibility of less oxygen reaching the fetus due to insulin production and iron deficiency related to diabetes.

The study, published in the journal “Pediatrics,” looked at 1,004 pairs of mothers and children over a seven-year period. For women who do not have diabetes, 6.4 percent is the typical rate of children born with disabilities. For women with diabetes in the study, however, the rate was 9.3 percent of children born with autism and 11.6 percent of children born with developmental disabilities.

Even children of diabetic mothers who were not diagnosed with autism scored lower on tests of language and communication skills.

While the results of the study are persuasive, further testing must be done to establish a definite link between obesity, diabetes and autism or other developmental disabilities.

The Critical Need we have to Support Adults with Autism Spectrum Disorder (ASD) in Society

Research tells us that young adults with autism are less likely than any other special needs group to gain employment or attain higher education.

As individuals with ASD turn 18 their lives change – drastically. Following high school, over half of young adults with ASD had neither had jobs nor enrolled in further education. Six years post high school, only a third of young adults with autism had gone to college and not even half had ever held a job.

This research examined data from the National Longitudinal Transition Study 2, a nine-year study of youth enrolled in special education classes during high school. They compared the post-high school employment and education of young adults ages 19-23 across several disability groups. These included individuals with ASD, intellectual disability, speech-language impairment or learning disability.

As it turned out, employment and education due to degree of impairment. The higher functioning individuals had the highest rates. Nearly 60 percent of this group attended some college and 80 percent had some paid jobs. This was dramatically contrasted in the low functioning group who had 11 percent enrolled in post-secondary education and only 23 percent had ever had a job.

Employment rates rose with family income (33% in families earning <$25,000; 75%  in families earning >$75,0000) suggesting that with the right support services (that higher income families may have access to) the chances for independence  in adulthood.

Dr. Shattuck’s report called for further research to determine the types of services that can best encourage a successful transition into adulthood. He also emphasized the need for more ideas on interventions to help low-income youth gain access to services that will allow them to have fuller participation in society.


Shattuck P, Carter Narendorf S, Cooper B, Sterzing P, Wagner M, Lounds Taylor J. Postsecondary Education and Employment Among Youth With an Autism Spectrum Disorder. Pediatrics. 2012; 129 (6): 1-8.

Can Innovative Cancer Research Help Solve the Autism Puzzle?

Scientists believe they understand how to normalize brain function to treat and correct autism-like behaviors. They found that a compound commonly used to treat cancer can also correct neuron imbalances in genetically engineered mice that showed autism-like behavior.

In Canada at McGill University and the University of Montreal, researchers discovered similarities in an overproduction of proteins in the brain and autistic behavior. They could stop the autistic behavior in mice by reducing the production of this protein, called neuroligins (NLGNs) Neuroligins overproduce in the absence of the EIF4EBP2 gene.

Lead author of the study, Dr Nahum Sonenberg of McGill University’s Goodman Cancer Research Centre is an expert in the abnormal proteins that are produced in cancer cells. The researcher’s team has long studied these proteins on engineered mice that were susceptible to cancer cells. In their research, they noticed that the mechanisms used were similar to ASD. This is what Dr Sonenberg had to say:

“My lab is dedicated to elucidating the role of dysregulated protein synthesis in cancer etiology. However, our team was surprised to discover that similar mechanisms may be implicated in the development of ASD.”

They started their research by engineering the mice to exhibit different types of brain gene expression. They removed the EIF4EBP2 gene, which again, subsequently causes an overproduction of the proteins that induce autism-like behavior.

These proteins are necessary for regulating the connection of neurons, called synapses. However, the overproduction causes an imbalance of synaptic activity.

The researchers discovered they could reverse the effects of the genetically engineered mice. Additionally, they also used a non-replicating cancer virus that acted as a block to inhibit the synthesis of neuroligins.

The study was successful in showing that there may be a pharmacological answer to helping reverse autism, but the substances used on the test mice were considered too toxic for humans. There is optimism about further long-term projects to help find other alternative substances that could produce the same effect and is safe for humans.

Obese Mothers More Likely to Have Children with Autism

According to recent findings, obese mothers are twice as likely to have children with autism. Researchers found that women who were obese, or had conditions associated with being overweight such as type 2 diabetes, high blood pressure or gestational diabetes were more likely to have children with problems.

This study looked at nearly 1000 children 2-5 years of age, two thirds of whom had autism or other developmental delays, and matched them against the third who had developed normally.

Researchers found that obese women were almost 70% more likely to have a child with autism and more than twice as likely to have a child with a developmental delay.

To read the full story, click here.

Are Organophosphate Pesticides Contributing to the Autism Epidemic?

Organophosphates and Autism

As a parent, if someone asked you if your child is exposed to organophosphates, your first question may be “repeat that?” Of course, the second would be “What are organophosphates?” In all reality, whether or not you know what they are, your children may be being exposed to the dangerous compound. Furthermore, what are the dangers that organophosphates can pose to the Autistic body?

What are Organophosphates?

Organophosphates, often abbreviated as (OP), are one of the compounds that contain phosphorus.

Where are Organophosphates found?

OP’s are found in many insecticides. Since they are meant to kill insects and other pests, because the internal markup of insects and humans are somewhat similar, they also pose dangers for the human body as well.  Just as insecticides break down the central nervous system of insects, so can they to the human central nervous system. According to the NRDC (, some of the ingredients of Organophosphates are OPs include malathion, methyl parathion, diazinon, azinphos-methyl (Guthion), chlorpyrifos (Dursban).

What are the dangers of Organophosphates?

OP’s attack the nervous system by poisoning one of the body’s essential enzymes. Acetylcholinesterase, also known as AChE,  is the enzyme that is responsible for breaking down impulses of the nerves.

In May of 2010, a study was released in which a sample of children were tested. The children who were found to have a higher level of organophosphate pesticide metabolites in their urine were more likely to have Attention Deficit/Hyperactivity Disorder (ADHD).  Those children who are raised in agricultural communities had a higher level of OP’s in their urine as they are exposed to pesticides as a part of their daily environment.

What does this mean for Autism?

The Department of Medical Biochemistry released this statement regarding the connection between Ogranophosphates and Autism:

Recent studies suggested a possible implication of the high-density lipoprotein associated esterase/lactonase paraoxonase 1 (PON1) in ASD. In the present study, we aimed at investigating the PON1 status in a group of 50 children with ASD as compared to healthy age and sex matched control participants. We evaluated PON1 bioavailability (i.e. arylesterase activity) and catalytic activity (i.e. paraoxonase activity) in plasma using spectrophotometric methods and the two common polymorphisms in the PON1 coding region (Q192R, L55M) by employing Light Cycler real-time PCR. We found that both PON1 arylesterase and PON1 paraoxonase activities were decreased in autistic patients (respectively, P < 0.001, P < 0.05), but no association with less active variants of the PON1 gene was found. The PON1 phenotype, inferred from the two-dimensional enzyme analysis, had a similar distribution in the ASD group and the control group. In conclusion, both the bioavailability and the catalytic activity of PON1 are impaired in ASD, despite no association with the Q192R and L55M polymorphisms in the PON1 gene and a normal distribution of the PON1 phenotype.

At the end of the day, the logic stands behind Organophosphates having such an affect on the human central nervous system, just as it does insects. On the other hand, one study isn’t going to prove a definitive correlation. Researchers are surely hard at work doing more studies on the connection.

If nothing else, though, put another point in the column for the conditions that a Urinalysis can detect.


Chromosome 5 Found To Be a Significant Link to Autism Disorder

chromosome imageIf you’re like the majority of the population you’re not exactly a master at all of the technical terms that are thrown about in studies of  various treatments for Autism. Whenever I do any kind of article reading, I’m sure to have my search engine open and ready to go, in order to find the “lay-man’s terms” for different words and medical jargon. Truth be told, it’s a lot

A new study of chromosomes has found a connection between chromosome 5  and Autism.  Great, right? But, what does it all mean?

What’s a Chromosome? The need-to-know basics.

Chromosomes are found in the cell nucleus and consist of long chains of nucleic acids coated with protein. Each chromosome contains hundreds or thousands of the genes that form our hereditary blueprint. Humans have 23 pairs of chromosomes, 46 total. Each parent contributes 1 chromosome to each pair.

Each chromosome has genes that determine almost every detail about us as a person. For example, some of the genes that are located on Chromosome 5 are: Pikachurin – which is responsible for the eye’s ability to track moving objects; FGFR4 which is the fibroblast growth factor receptor, and SMN1 and SMN2 -the survivor motor neurons.

Chromosome Disorders

Chromosome disorders occur if there is an an alteration in the number of chromosomes in the nucleus of a cell, or if there is an alteration of the structure of a chromosome. One of the chromosome’s that researchers have looked at in depth recently is chromosome 5.

Chromosome 5 represents almost 6% of the total DNA in cells. Changes to chromosome 5 have been linked to certain types of cancers and Chron’s Disease. A recent study suggests that chromosome 5 may play a major role in Autism cases as well.

Chromosome 5 and Autism – The Connection

An in depth genetic scan of Autism families found an area on chromosome 5 that is strongly associated with Autism. In the October 2009 issue of Nature, it was also said that there were two genomic areas that may harbor typically rare variants relevant to Autism.

There have been previous studies on how genes and chromosomes may affect Autism. These studies have found possible links on chromosomes 15, 16 and 5, but this is the first study that has concentrated the area of chromosome 5 to the 5p15 region. The study has found that a specific gene, SEMA5A (or semaphorin 5A), that is responsible for enabling  neurons to their targets, may have a role in Autism Disorders.

For this particular study, the genomes of 1,031 families were examined. Furthermore, each family was considered a ‘multiplex’ family, or, families with multiple members with Autism Disorders. One method of study that took place was comparing the genes and chromosomes of the family members with the disorder to find like variants. The other method concentrates on comparing people with the disorder with people without the disorder to find similarities and differences to better understand where some causes of the disorder may lie.

A combination of these methods allowed researchers to discover that chromosomes 6 and 20 are are significantly linked with Autism. Additionally, another area on chromosome 5 was found to carry a link as well. The new area, or nucleotide is in very close proximity to  SEMA5a. The variant is protective. In other words, it’s presence decreases the risk of Autism

Despite previous proof that Autism is a hereditary disorder, the genetic scan turned up very few genetic markers. It is believed by many that a mix of common variants that are prominent in 5% of the population as well as some rare variants are more contributory to Autism.

Bottom line – What does this all mean?

Simply put, this means that research is progressing and the causes of Autism are becoming more and more discoverable. Causes, after all, are the first step to finding a treatment. Because Autism truly is a puzzle of a disorder, finding one universal treatment may not be right around the corner. However, the more we find links to the cause, the more treatments we can find that satisfy what particular “form” of Autism is affecting our loved ones.

Risk of Autism Higher in Children Born to Older Women

Autism Awareness Ribbon
Autism Awareness Ribbon

The universal symbol for autism is a puzzle piece. It’s pretty symbolic if you think about it. There are a lot of pieces to the Autism puzzle – some we’re aware of and others that we aren’t. Another piece of the Autism puzzle has fallen into place after a study done by the University of California, Davis.

The study, published in the February issue of the Autism Research Journal took into account over 4.9 million children born in California in the 90’s.  Researchers found that the mother’s age when giving birth had a direct affect over the child’s risk of developing Autism. This is particularly true for women over the age of 40 as they are 50% more likely to give birth to an Autistic child than women who give birth at ages 25-29.

Additionally, for every 5 years maternal age, the risk of Autism is increased by 18%.  Some studies have indicated that a father’s age also had an effect on the statistics and risk. In this particular study, researches found that the father’s age had no effect on the Autism risk when the woman’s age was over 30. It isn’t until you combine a man over 40 and a woman under the age of thirty. For example, if a man over 40, and a woman under 25 conceive a child, the risk of Autism in that child is double that of a father between ages of 25-29 and a woman of the same age.

In the 90’s, the number of women who gave birth in California went up 300%. Autism cases sky rocketed by about 600%. This study shows the clear correlation of the age of women giving birth and the risk of the child developing Autism, but researchers and experts point out that these cases only account for 5% of the overall cases of Autism that exist.

Despite the seemingly small impact that this study has on the overall spectrum that is Autism, it’s very important to realize that Autism is a very complicated disorder to investigate. There are many “pieces” to the puzzle, and though this is only one small piece, it’s a collective amount of these small pieces that when put together, that make Autism more known, understood, and hopefully someday, cured.