Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder
Molecular Diagnosis & Therapy ISSN: 1177-1062 (Print) 1179-2000 (Online)
ABSTRACT: Autism spectrum disorder (ASD) affects ~ 2% of children in the United States. The etiology of ASD likely involves environmental factors triggering physiological abnormalities in genetically sensitive individuals. One of these major physiological abnormalities is mitochondrial dysfunction, which may affect a significant subset of children with ASD. Here we systematically review the literature on human studies of mitochondrial dysfunction related to ASD. Clinical aspects of mitochondrial dysfunction in ASD include unusual neurodevelopmental regression, especially if triggered by an inflammatory event, gastrointestinal symptoms, seizures, motor delays, fatigue and lethargy. Traditional biomarkers of mitochondrial disease are widely reported to be abnormal in ASD, but appear non-specific. Newer biomarkers include buccal cell enzymology, biomarkers of fatty acid metabolism, non-mitochondrial enzyme function, apoptosis markers and mitochondrial antibodies. Many genetic abnormalities are associated with mitochondrial dysfunction in ASD, including chromosomal abnormalities, mitochondrial DNA mutations and large-scale deletions, and mutations in both mitochondrial and non-mitochondrial nuclear genes. Mitochondrial dysfunction has been described in immune and buccal cells, fibroblasts, muscle and gastrointestinal tissue and the brains of individuals with ASD. Several environmental factors, including toxicants, microbiome metabolites and an oxidized microenvironment are shown to modulate mitochondrial function in ASD tissues. Investigations of treatments for mitochondrial dysfunction in ASD are promising but preliminary. The etiology of mitochondrial dysfunction and how to define it in ASD is currently unclear. However, preliminary evidence suggests that the mitochondria may be a fruitful target for treatment and prevention of ASD. Further research is needed to better understand the role of mitochondrial dysfunction in the pathophysiology of ASD.
@ Rebecca Lee, This is very interesting about "sense of impending doom" . I have studied a lot about mercury and had not run into that one. Any more info on that?
Regarding detoxing of mercury, Andy Cutlers protocol may be the best. I dont have the ability to judge, but would like to add that a variety of products and information on how to use them is available with Quicksilver Scientific in Denver.
Anyone interested in mercury should watch the youtube videos by Chris Shade, PhD, of Quicksilver - particularly his speeches at the IAOMT conventions. A lot of Dr. shade's information on mercury is more recent as compared to Cutlers and some of our original ideas about mercury have been shown to be untrue. What I learned from Dr. shade, and some others turned out to be extremely useful for me , when I became toxic after a dental procedure and when I was faced with repairing my husbands health, (spiraling into Alzheimers ) by removing mercury and removing dental amalgams. I had to do all this pretty much on my own in India, where there is little understanding of mercury. My dentist still things Im nuts, but I credit him with cooperating in implementing biological dentistry techniques to what extent we could .
Posted by: Cherry Misra | July 27, 2018 at 12:59 AM
Boyd Haley said the following about mercury and mito disorder: "Boyd Haley Comments On Thimerosal and Mitochondrial Dysfunction
Boyd Haley, is the Chairman of the Chemistry Department of the University of Kentucky and has done research into the way mercury behaves in the body. Here he comments on how mercury damages the mitochondria.
I am posting this for those of you who understand advanced biochemistry. I am not one of you.
Mitochondria are exceptionally susceptible to mercury toxicity for two very obvious reasons if you are trained in biochemistry.
First, the mitochondrial located pyruvate dehydrogenase complex (PDH) that receives pyruvate from glycolysis (in the cell cytosol) requires lipoic acid as a cofactor. Lipoic acid has two closely placed thiol groups that reduce-oxidize-reduce in a cyclic manner as the pyruvate is converted acetyl-CoA then used to produce citrate in the mitochondrial located citric acid cycle. Lipoic acid is an excellent chelator of Hg2+, but this totally blocks PDH and prevents activity of the citric acid cycle. This inhibits the production of NADH and FADH2 which feed into the electron transport system that makes the pH gradient that is used to make ATP (the high energy compound that is used to synthesis protein, DNA, RNA, glutathione etc.). You get the picture--inhibiting this initial enzyme, PDH, causes a lot of down stream problems. Lack of ATP prevents many biochemical systems from working, including the synthesis of glutathione (which autistic children are low in) that make them susceptible to many other toxins since glutathione needs to be attached to many to have them excreted by the body.
Second, the electron transport system in the mitochondria is rich with iron-sulfur clusters that aid in the transport of electrons and the production of the pH gradient that is needed to make ATP. Mercury would potently inhibit this system due to its attraction to such sulfur complexes.
Conclusion, the young girl in the latest autism story may or may not have had a mitochondrial disorder before receiving her thimerosal containing shots. This would have to be proven by a genetic testing. However, she, nor anyone else getting high doses of thimerosal at an early age, would necessarily have to have an underlying mitochondrial disorder to have a negative reaction to thimerosal exposure. Thimerosal exposure at a young age could definitely be the cause of the mitochondrial problems she had subsequent to the vaccines."
Boyd Haley
Posted by: cia parker | July 26, 2018 at 11:47 PM
Here is a singular (there are others) Journal Article disclosing Aluminum (such as in vaccines DTaP, etc.) being destructive to mitochondria. Note in the first couple paragraphs the authors cite Aluminum is already recognized as causing Alzheimer's, Parkinsons, ALS (Lou Gehrig Disease).
http://journals.sagepub.com/doi/pdf/10.1177/039463200501800410
Just so everybody knows (I've said it here several times), since 2011 the DTap vaccine shot has been shoved/coerced onto pregnant women, particularly here in the U.S. Every variation of this Alulminum-loaded DTap shot is also injected 3(!) times into newborns via 2 months, again at 4 months, again at 6 months via their "Schedule" shots, as the damn US Immunization Schedule directs/dictates.
On top of this of course are those pregnant also getting their mitochondrial-toxic flu shots, and then their 6 month old infants getting their own mercury-mitochondrial-toxic flu shots, again 4 weeks later, on and on every year for life! Unforgivable.
Posted by: david m burd | July 26, 2018 at 04:31 PM
A "sense of impending doom" is a very classic mercury symptom. Andy Cutler said mitochondrial disorder IS mercury. Get the mercury out and these problems will resolve. Along with any of the other myriad problems mercury causes. The protocol Andy developed is the only safe way to do this.
Posted by: Rebecca Lee | July 26, 2018 at 10:17 AM
Stay on top of this! Enzymes for aerobic metabolism are located in the mitochondria. These enzymes may be involved in side effects from drugs. Anyone know if pharmaceutical scientists look for drug effects on aerobic enzymes???
"Metabolic syndrome" is beginning to be recognized as a prominent affliction of mentally ill adults, and now "50 is the new 70" whereas the opposite is true for many of the rest of us.
After many years, the "miracle" of Thorazine was recognized as cause of a premature Parkinson-like disorder. Newer psych meds likewise have horrific side effects when used long-term. My healthy, athletic autistic son is now 55, and has become handicapped by metabolic syndrome. Please remain reluctant to follow advice to take BusPar, Ativan, Risperdal, etc. etc. These are poisons, and you will do battle with "professionals" pushing these drugs!!!
Posted by: Patience (Eileen) Simon | July 26, 2018 at 09:21 AM
All the information out there on autism, is sometimes so much that it is confusing,and overwhelming.
Mitochondria does seem to keep popping up, doesn't it.
My sister-in-law has mythensis gravis - "acquired" and it is the immune system is attacking ATP that is produced by the mitochondria.
Wasn't it also information about the mitochondria that helped the Polings' win their autism case for their daughter in vaccine court? Oh sure they said the Mother had it too, so it was inherited, and vaccines just made it all worse. The mother was a nurse, and I am sure had all her vaccines, and the Dad a doctor had plenty too.
It was an environmental "acquired" mitochondria disfunction that they found when my husband went all the way down to Emory clinic for specific test, after having two vaccine reactions, the last one leaving him weak and hurting.
Then there is Parkinson. From what I am reading, it is a autoimmune disease in which the genes that produce enzymes that are suppose to hide the damaged parts,or antigens of our mitochondria are turned off. OF course they are making sure they say "genetic" AH! In the case of Parkinson disease these genes have been turned off, and our own immune system then attacks the remnants of the mitochondria that are on the surface of the neuro cells that produce dopamine. They say this defective two genes is present in early onset Parkinson; stating things like; genetic, genes, and finally inherited. I bet that it is for late onset Parkinson for the elderly too, from all those flu shots. AH!
The below article says not only "inherited" but "Rare" AH, again! I doubt either will turn out to be the case of being really inherited, or being really rare. Not bred all up like lab rats! What the researchers have done is to develop mice without these two genes, so they can say rare and inherited, but in the normal population of escalating auto immune diseases, it is going to be proven (Soon I pray) that it is damaged genes from the environment.
My son complains also that he feels weak too, lack of energy, yet his anxiety grows. How much you want to bet that impeding doom, and anxiety often happens when the body senses things are not working properly when it comes to energy. Heart attack victims often report the feeling of doom and anxiety too.
https://parkinsonsnewstoday.com/2016/06/28/rare-inherited-parkinsons-disease-might-be-caused-by-autoimmune-mechanisms/
Posted by: Benedetta | July 26, 2018 at 08:54 AM