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De Novo Mutations and Autism

Posted Aug 01 2012 12:00am

Old sperm and egg By Teresa Conrick

It's been all over the news and it really is NOT NEW news.  The idea of paternal age and these "de novo mutations" has been one of the many exaggerated "THE reason" studies for Autism over the years.  Many think it is a wasteful approach to exploring Autism's causation as it does little in stopping  the rising epidemic numbers and nothing for those affected by a constellation of extreme health issues and behavioral symptoms.

Here on Age of Autism, Bob Krakow recently wrote a thoughtful article about this topic
"...this paper may really show is that there exists a double role for environmental factors, as follows: (1) environmental factors cause de novo mutations, as reflected in the paper's data, and the mutations accumulate with age, (2) the de novo mutations create vulnerability in some children, and (3) environmental factors then trigger disease in the (environmentally-caused) genetically susceptible children. Thus, rather than showing that autism or schizophrenia may be primarily genetic, the paper supports the argument that the significant operative variables are environmental."

Examining examples then of environmental factors causing these de novo mutations seems to be a good idea. Allowing one more study to tell us the same  wrongly focused scenario   over and over   is an expensive and inappropriate use of funding for Autism research.

The following samples of research show us a picture of what can be happening
- De Novo Mutations:"Not inherited. A genetic difference that is not inherited but arises due to a gene alteration that appears in one family member as a result of a mutation in an egg or a sperm of one of the parents, or in the fertilized egg itself. The mutation is not part of the parent's overall genetic code ."

- MUTAGEN : "An agent, such as a chemical, ultraviolet light, or a radioactive element, that can induce or increase the frequency of mutation in an organism."

- "Neither Fluzone vaccine nor Influenza A (H1N1) 2009 Monovalent Vaccine have been evaluated for carcinogenic or mutagenic potential, or for impairment of fertility."

- "... thimerosal is genotoxic "  - Genotoxic:  Damaging to DNA and thereby capable of causing mutations or cancer.

- Thimerosal is a widely used preservative in health care products, especially in vaccines. Due to possible adverse health effects, investigations on its metabolism and toxicity are urgently needed....Thus, genotoxic effects were seen even at concentrations which can occur at the injection site. Toxicity and toxicity-related elevation of micronuclei was seen at and above 0.6 micro g/ml thimerosal......These data raise some concern on the widespread use of thimerosal.

In 2010, after yet another "Old dads cause autism" study hit the news, a twist from blaming the mother in Autism, this paper was published to examine how paternal de novo mutations could be risk factors in Autism:

2010 Jan

Environmental risk factors for autism: do they help cause de novo genetic mutations that contribute to the disorder? Abstract

"Recent research has discovered that a number of genetic risk factors for autism are de novo mutations. Advanced parental age at the time of conception is associated with increased risk for both autism and de novo mutations. We investigated the hypothesis that other environmental factors associated with increased risk for autism might also be mutagenic and contribute to autism by causing de novo mutations. A survey of the research literature identified 9 environmental factors for which increased pre-conceptual exposure appears to be associated with increased risk for autism. Five of these factors--mercury, cadmium, nickel, trichloroethylene, and vinyl chloride--are established mutagens. Another four--including residence in regions that are urbanized, located at higher latitudes, or experience high levels of precipitation--are associated with decreased sun exposure and increased risk for vitamin D deficiency. Vitamin D plays important roles in repairing DNA damage and protecting against oxidative stress--a key cause of DNA damage. Factors associated with vitamin D deficiency will thus contribute to higher mutation rates and impaired repair of DNA. We note how de novo mutations may also help explain why the concordance rate for autism is so markedly higher in monozygotic than dizygotic twins. De novo mutations may also explain in part why the prevalence of autism is so remarkably high, given the evidence for a strong role of genetic factors and the low fertility of individuals with autism--and resultant selection pressure against autism susceptibility genes. These several lines of evidence provide support for the hypothesis, and warrant new research approaches--which we suggest--to address limitations in existing studies. The hypothesis has implications for understanding possible etiologic roles of de novo mutations in autism, and it suggests possible approaches to primary prevention of the disorder, such as addressing widespread vitamin D deficiency and exposure to known mutagens."

Some key pieces in that full paper:

- evidence for mitochondrial as well as nuclear genomic instability in autism,

- ...the lifelong production of sperm cells offers significantly more opportunities for mutations than is the case for ova.

- Palmer et al. found that autism prevalence increased 2.6% for every 1000 lb of mercury released in the vicinity of the   geographical center of a given district, and 3.7% with nearby power plant emissions.

- Several lines of evidence indicate that oxidative stress induces mutagenesis

- Sperm cells appear to be more vulnerable to the mutagenic effects of oxidative stress than oocytes. Several features of sperm cells, including the unique membrane structure crucial to fertilization, provide greater opportunities for the production of ROS

- ...rat liver cells treated with vitamin D four weeks before the introduction of a mutagenic agent showed significantly fewer chromosomal aberrations

- The present hypothesis does not exclude a role for gestational and childhood exposure to toxic factors in the etiology of autism, as oxidative stress and mutagenic effects are also likely to have adverse effects on mitosis and development.

Many would like to ONLY research gestational causes as it then gives the flavor that Autism is solely "genetic" when much evidence shows vulnerability before and after birth to be the increasing factor causing the epidemic numbers. The paternal de novo mutation caused by mercury exposure does exemplify the research done by Mark Blaxill and Dan Olmsted in their book, The Age of Autism: Mercury, Medicine, and a Man-Made Epidemic:

"We believe that  autism was newly diagnosed in the 1930s for the simple reason that it was new.  The organic chemicals industry that grew out of chemical warfare industry research during World War I led to new commercial uses for mercury, including the introduction of some extraordinarily toxic compounds made from ethylmercury.  This, our research suggests, led directly to the first cases of autism......families cluster around the medical profession, agriculture, and forestry---the three biggest risk factors for exposure to mercury in its newest and most toxic form.....Elizabeth Peabody Trevett's work with the well-baby clinic and its diphtheria vaccination component at Harvard is the most direct sign of a connection to heightened risk of infant vaccination with a thimerosal- containing  vaccine in the first cases....The way some of the early cases clustered around Baltimore and its active anti-diphtheria campaign starting in the early 1930s is also noteworthy."

Very noteworthy yet the fear of this truth has many scrambling to deny it.  Why is that?  Maybe because there is an entire industry of billions of dollars tied up to vaccination as well as rising issues of pollution, agricultural pesticides and toxic food additives.  Since the 1930s, fierce toxic, industrial growth has become very possibly the fuse to Autism but excessive vaccination is the flame exploding in every state, county and small town.  We all need to demand research and treatments that will stop this epidemic and help those affected today.  Our children and our descendants are so worth this effort.

Teresa Conrick is Contributing Editor for Age of Autism.

Posted by Age of Autism at August 29, 2012 at 5:44 AM Permalink

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