MedPage Today released an article by Hanneke Weitering providing details of research done at Yale University using stem cells to build 3D neuronal cultures that mimic brain cells. The research was narrowly focused on a group of patients with autism spectrum disorder (ASD) that also had an enlarged brain. The title of the article is Brain Organoids Provide Insight into Autism – Stem cells help reveal brain development in patients with autism spectrum disorder. While this study is based upon a very limited population, the approach provided very specific information on the abnormalities in development of the brain cells.
These so-called “brain organoids” revealed an excess of inhibitory cells and increased neuronal connections, which the scientists were then able to correct by suppressing the expression of one gene, FOXG1.
About 80% of the cases of ASD do not have clearly defined causes. Genetic and environmental factors have been studied. The main conclusion of the ASD studies to date has been that no combinations of causes have been identified as the main source of the growth of ASD. It is encouraging in this specific instance that a single gene has been identified as a major cause for this variant of ASD. Early stem cell research used cells that were collected from fetal tissue. This led to discussions of the ethical issues of using fetuses as the source of stem cells. The stem cells used in the Yale research were collected from skin tissue. The ability to focus on a single gene simplifies any genetic modifications needed to clinically solve this specific instance of ASD. The National Institute of Health (NIH) provides extensive information on stem cells and stem cell research.
One of the perplexing questions to be answered is what has produced the huge increase of ASD patients in a short time. The Center for Disease Control and Prevention (CDC) reported an increase of the incidence of ASD from 1 in 150 in 2000 to 1 in 68 children in 2010. The reported incidence rate is unchanged from 2010 to 2014. It does not explain the growth of autism since the initial identification and naming of the disorder in the 1950s when the estimate was 1 in 10,000. There are claims by many medical practitioners and researchers that the rate of ASD growth is due to better testing and tracking of results, which they claim explains the perception that there has been an epidemic of new ASD patients. Autism is not a subtle disease. Those that deny that ASD growth is real ride in the same boat as those that denying global warming.
The conclusions from current research indicate that there are strong genetic influences for causes of ASD. The CDC data provides major insights into genetic relationships and the probability of given conditions leading to ASD. Genetic mutations do not normally occur at a rapid rate unless there are external factors damaging the genes. There are major differences in the rate of ASD from state to state. Alabama has the lowest incidence at 1 in 175. New Jersey had the highest incidence at 1 in 46. Pollution in New Jersey may be a factor, but Utah and North Carolina also had a relatively high rate of ASD patients.
Many believe that mercury-based thimerosal used as a preservative in childhood vaccinations explains the growth in ASD. Thimerosal was removed from childhood vaccines in 2001, with the exception of childhood flu vaccines. The incidence of ASD patients has continued to grow. The number of vaccinations that children now get may be a significant factor in the growth of ASD cases. However, the CDC flatly states that vaccines do not cause autism.
Something causes autism and bad genes are not the answer in over 80% of the cases. Based upon applying the procedures used in the Yale research, those that have a clear genetic cause for ASD may receive better treatment options than the majority of ASD patients. ASD needs to be a priority for government sponsored research that is unbiased by the financial priorities of pharmaceutical companies and previous conclusions reached by the CDC and the FDA. It is time to make the reduction of ASD a national priority, with an emphasis on finding the causes of the increases in cases and elimination of those causes. Ingredients in food, pollutants in air and water, and residual pesticides all need to be examined as causes of increases in ASD.
