Lyme is all around us but I believe we will help many more if we give up on blaming everything on the tick related introduction of more pathogens than we had the day before we are bit.  It is confusing to people, as too often Lyme tests are inconclusive. So let’s rename the condition LIMES (Lowered Immune Metabolic Encephalopathy Syndrome) or LIMNS (for Neuropathy, as in MS like conditions) or LIMAS (Arthropathy when it is more arthritic in presentation), as these names move us closer to seeing the true picture.

It is sad to turn patients away with these devastating symptoms when the Infectious Disease Association guidelines force us to say it is Lyme. I am certain broadening the approach to Food sensitivities, other Infections, Genetics, Heavy metals and Hormones and Toxins would wind up with better results than the low batting average that is reported from long-term IV antibiotics, which are often reported as low as 33% about which Lyme critics point out is the response rate to placebos. If we focus on my F.I.G.H.T. program and do something to help deal with the obvious issues that can be found in almost anyone in any of these categories, we can be more cost effective and actually help more patients, as they will stop looking just for a doctor that will interpret their test as positive for Lyme.

Realize that everyone today will fail the Mount Sinai School of Medicine $4900 test for toxins. So let’s blame the neurotoxins and endocrine disruptors just like we blame the total body burden of infection, as properly tested everyone will have some Chlamydia or CMV or Coxackie or Candida and so on.

No one will pass the test at Harvard for bone lead levels. They have shown that the level in bone is in equilibrium with most other tissues in the body including the eye so there is a direct correlation with how high lead in bones is and how soon you develop a cataract. So there is no one on earth that does not need some lead out and since Lead makes Mercury as much as 100 times more toxic, who needs tons of tests to know what to do in most of the categories my F.I.G.H.T. program acronym represents.

So would it not be better medicine to offer some oral detoxification for the Heavy metals and the Toxins, with ZeoGold and BIOE’NR-G’Y C, Beyond Fiber, and some organic Greens and some Maca and help people eliminate suspect foods for a time. Before letting the outcome of the patient’s intervention with the doctor pass on the results of unreliable negative lab tests for Lyme, because of immune suppression until some treatment is started for awhile and then the test for Lyme often changes to positive. What a waste to not simply realize we are confronted with an epidemic of autoimmune diseases that has so many different presentations that over 100 conditions are now considered to be autoimmune related. These conditions deserve meaningful intervention and my F.I.G.H.T. program protects patients from Johnny One Note health care providers who focus only on one aspect of my program and thus only help a small percentage of patients.

Let’s broaden our approach and help everyone with empowering knowledge. Everyone we see today needs help to optimize every one of the categories in F.I.G.H.T. If we expand the FIGHT concept we would make F stand for FOCUS on positive thinking not just Food and H for hormones and Heavy metals and then really the G is not just Genetics but also the entire new field of Epigenetics where exposures to BISPHENOL A have led to overnight changes in Gene activation. They are permanent until treated with aggressive methylation support, as with the MSM and TMG found in BIOE’NR-G’Y C and the active forms of Folic Acid found in Beyond B12.

We all remember AIDS is acquired immune deficiency so now I recommend that this new epidemic just be renamed LOWERED IMMUNE METABOLIC ENCEPHALOPATHY SYNDROME or LIMES then we can start to be much more cost effective in improving the health of many who suffer without excess reliance on some lab test for Lyme related infections.

This link to MEDSCAPE may help broaden your knowledge regarding some aspects of this new epidemic. By putting LIMES category into a new AUTOIMMUNE RELATED condition it forces us to broaden our approach beyond antibiotics can help our patients who still will not be covered by insurance but at least they will not be turned away without receiving real help and we will not waste time with medical board fights. Patients will be taught something that I am confident for most will help them improve their health more than getting 6 months of IV antibiotics even if it were fully covered by their insurance company. It is not just an antibiotic deficiency we are encountering; read the book BEYOND ANTIBIOTICS!

It is like the old adage TEACH a man to fish or give him a fish; I prefer the teaching approach. Knowledge of what is really wrong with our health can be empowering but to put everything on one infection or one toxin and ignore leaky gut and food sensitivities, etc I feel  means we provide little long-term meaningful help to patients who deserve a broader understanding of what is really going wrong with their health.

Garry F. Gordon MD,DO,MD(H)
President, Gordon Research Institute
www.gordonresearch.com
~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~

A Case of Ascending Paralysis: the Signs and Symptoms of Tick Paralysis
Menyoli Malafa, MSII; Veronica Tucci, JD, MS IV; Albert Vincent, PhD; Sajeel Chowdhary, MD
Posted: 03/26/2009; American Academy of Emergency Medicine.
2009;16(1):22, 26, 27 © 2009 American Academy of Emergency Medicine
http://www.medscape.com/viewarticle/589591

Summary
Tick paralysis (TP), a response to the neurotoxic effects of the salivary secretions produced by attached hard ticks (Ixodidae), is a syndrome that mimics a large number of better known neurological disorders. TP is a sporadic, seasonal, rural disorder in which acute ataxia often develops five to six days following a history of walking in grass or low brush, followed by ascending flaccid paralysis. Recognition and timely removal of the tick usually leads to complete resolution of symptoms, whereas continued feeding can lead to respiratory arrest and death. Follow-up includes species determination and patient surveillance for tick-borne infectious disease.

Discussion
TP is a worldwide disease, occurring in Australia, Europe, South Africa and throughout North America. In the United States, most cases occur in the Rocky Mountain states and the Pacific Northwest, including Washington, Montana, Oregon, Idaho, Wyoming, Nevada, Utah, Colorado and the northern parts of Arizona, New Mexico and California. However, cases have also been reported in central, southern and eastern states, including Texas, Oklahoma, Mississippi, Florida, Georgia, North Carolina, South Carolina, Virginia, Washington, D.C., Pennsylvania and New York. In Canada, most cases are encountered in the western part of the country, primarily southern British Columbia.[1,2] More than 60 species of ticks are known to cause paralysis, but only a handful are responsible for most cases. In North America, the disease is associated primarily with six species: Dermacentor andersoni (‘Rocky Mountain wood tick’), D. variabilis (‘American dog tick’), Amblyomma americanum (‘Lone Star tick’), A. maculatum (Gulf Coast tick), Ixodes scapularis (formerly I. dammini, ‘Blacklegged tick’) and I. pacificus (‘Western Black-legged tick’). Peak incidence occurs between April and June when nymphs and mature adults abound in low vegetation and climb upward, questing for their next host by extending their anterior pairs of legs.[1,3,4] Paralysis is a response to a neurotoxin secreted by the salivary glands of the arachnid.[1,5] The biochemistry and pharmacology of the specific paralysis- inducing toxins produced in North American ticks are yet to be fully elucidated, but current evidence points to a mechanism by which the toxins inhibit presynaptic acetylcholine release at the neuromuscular junction.[1,3,6] TP presents more often and more severely in children, suggesting a concentration-dependent relationship between toxin levels and symptom expression.[1,4] Signs and symptoms of TP begin about five to six days after the parasite has attached, when neurotoxin is secreted at its peak levels. These prodromal symptoms include restlessness, irritability, fatigue, nausea, paresthesias and possibly ataxia. Over the next 24-48 hours, the patient develops ascending symmetrical flaccid paralysis and weakness in the lower extremities. Over the course of the next day or two, paralysis and weakness may ascend to involve the trunk, axial and upper limb muscles. Cranial nerves may also become involved in an ascending pattern, resulting in bulbar, facial and/or extraocular paralysis. Patients demonstrate diminished or absent deep tendon and superficial reflexes while, aside from occasional paresthesias, their sensory exam remains normal. Pain and fever are absent. Death ensues following paralysis of the respiratory muscles.[1,5,7,8,9] Atypical presentations reflect variations in the site of tick attachment. There may be ataxia and associated cerebellar deficits without accompanying muscle weakness. The disorder may also present as an isolated facial paralysis without trunk or limb involvement. Another group of atypical presentations is unilateral paralysis and/or weakness, including isolated unilateral facial paralysis.[1,8] Tick paralysis is treated by removal of the tick. Although the site of attachment is most often the head and neck region, the entire body should be scrutinized, including ear canals, nostrils and genitalia. Multiple ticks should be suspected, and all must be removed.[1,4,7,10] Applications of petroleum jelly, nail polish, alcohol, a needle and heat are inappropriate. These measures may result in infection and cause the parasite to salivate or regurgitate more of its bodily fluids.
The tick should be grasped with blunt, angled forceps as close as possible to the skin and to the embedded mouthparts (hypostome). Wearing protective gloves, slowly pull the organism straight outward with a gentle and steady traction, without twisting its body. Do not burst the tick. The hypostome is usually deeply and firmly embedded and should be removed surgically should it come detached. Antiseptic solution is then applied to the wound, and the recovered tick and severed mouthparts may be preserved in 75% ethanol for identification. The patient should be instructed to return in the event of additional illness and educated on protective measures against ticks.
The symptoms of TP, at least those caused by North American species, typically resolve rapidly following removal of all ticks from the patient. Improvement in the condition of the patient subsequent to tick removal is confirmatory for the diagnosis. Species found in some other parts of the world, notably Ixodes holocyclus of Australia, produce a very potent neurotoxin and symptoms may not subside as quickly, even worsening after removal.[5] The prognosis depends on clinical presentation prior to removal. If all ticks were removed prior to the onset of bulbar weakness, the patient often makes a full recovery within the first 24 hours. However, if onset of bulbar symptoms occurs during continued feeding, the likelihood of fatal respiratory paralysis increases to 10%. Therefore, prompt of diagnosis and tick removal are paramount.[1,5,7,8] Because ticks are both vectors and reservoirs for various infectious diseases, it is important to educate the patient about this added risk for possible concurrent illnesses. Table 1 displays the geographical location and infectious diseases associated with North American tick species which are also known to cause TP.[1,8,11,12]

References
1.Cunha BA, editor. Tickborne Infectious Diseases Diagnosis and Management. New York: M. Dekker; 2000.
2.Meier J, White J. Handbook of Clinical Toxicology of Animal Venoms and Poisons. STATE: CRC Press; 1995.
3.CDC. Tick paralysis – Washington. Morbidity and Mortality Weekly Report 1996; 45(16): 325-6.
4.Schmitt N, Bowmer EJ, Gregson JD. Tick paralysis in British Columbia. Can Med Assoc J 1969 Mar 1; 100(9): 417-21.
5.Meriggioli MN, Howard JF, Howard Jr. JF, Harper CM, Harper Jr. CM. Neuromuscular Junction Disorders: Diagnosis and Treatment. STATE: Informa Health Care; 2003.
6.Grattan-Smith PJ, Morris JG, Johnston HM, Yiannikas C, Malik R, Russel R, Ouvrier RA. Clinical and neurophysiological features of tick paralysis. Brain 1997 Nov;120(Pt 11):1975-87.
7.CDC. Tick paralysis – Colorado. Morbidity and Mortality Weekly Report 2006 Sep 1; 55(34): 933-5.
8.Knoop KJ, Stack LB, Storrow AB. Atlas of Emergency Medicine. STATE: McGraw-Hill Professional; 2002.
9.Biller J. Practical Neurology. STATE: Lippincott Williams and Wilkins; 2002.
10.Gammons M, Salam G. Tick removal. Am Fam Physician 2002 Aug 15; 66(4): 646.
11.Winn WC, Kineman EW, Allen SD, Janda WM, Schreckenberger PC,Procop GW, Woods GL. Koneman´s Color Atlas and Textbook of Diagnostic Microbiology. STATE: Lippincott Williams and Wilkins; 2005.
12.Sonenshine DE, Mather TN. Ecological Dynamics of Tick-borne Zoonoses. STATE: Oxford University Press US; 1994.
13.Greenberg BM. Clinical cases in neurology from John Hopkins. Case 2: acute ascending paralysis in a 4-year-old body. MedGenMed 2003 Apr 9; 5(2): 36.

Dr Garry Gordon DO, MD, MD(h) has an 18 page interview with Suzanne on detoxifying the body and how to do it….THIS IS OUTSTANDING….

I have most of Suzanne’s books….KnockOut was outstanding BUT THE “BOMBSHELL” is the BEST book yet……get out your yellow highliter and red pen….get out your stickies to mark pages….this book will enlighten you beyond belief…

GREAT JOB SUZANNE……YOU GO GIRL…..I will never forget our recognition dinner and enjoying an afternoon/evening with you…

YOU ROCK WOMAN….THIS IS A MUST BOOK FOLKS….like I said, RUN don’t walk RUN TO YOUR NEAREST STORE TO BUY IT…..

Angel Huggzzz

Keep a smile on your face, love in your heart and walk with the angels, holding hands in the “Chain of Love”

PAY IT FORWARD

Linda Heming
HEALTH COACH
Arizona Integrative Woman of the Year 2010
http://www.purative.com/?a_aid=4f62298de42ea
www.lymecommunity.com <<<< 6 blogs for Linda
http://lymebook.com/fight/<<< detox/healing=(sign up for newsletter Usually one email daily)
Editorial Calendar Manager www.publichealthalert.org
Practice Management Consultant
Risk Mgmt. Evaluator
CHOICE, Inc-Founder (Consumers for Healthcare CHOICES) 501 status
Lyme Activist/Advocate
Cancer Advocate
Child Advocate
Lyme/MOLD/Cancer Victim and Survivor
National Volunteer Outreach Team Coordinator “against” GMO foods.
Don’t fight city hall when you can BE city hall
The Dalai Lama said: “Forgiveness doesn’t mean forget what happened.”

Dr. Gordon’s Comments:

A contributor to food allergies/sensitivities has emerged, tick bites. This is a great piece of detective work and seems to not affect B or AB blood groups, as much as Type A or O.

“Scott Commins, an assistant professor of medicine and lead author of the U-Va. Study published in the Journal of Allergy and Clinical Immunology, said that in susceptible people such as Newell, a tick bite that causes a significant skin reaction seems to trigger the production of an antibody that binds to a sugar present on meat called alpha-galactosidase, also known as alpha-gal. When a person who has the antibody eats meat, it triggers the release of histamine, which causes the allergic symptoms: hives, itching and, in the worst case,alpha-galactosidase.”

Of course today with our epidemic of autoimmune disease and leaky gut and low level infections like Chlamydia and CMV in almost everyone, these elevated antibodies to something or even auto-antibodies are very common and may be more dangerous than widely appreciated.

I still encourage those of you who are sensitive to so many foods to understand that leaky gut is epidemic today. I am convinced GMO foods are a contributor, as they introduce Bacillus Theringensis into our bodies, which are now detectible in the blood stream of patients! Bt then causes Dysbiosis.

I hope many of you will try my concept of using my Detox Drink (BioEn’R-G’y C, H Minus, ZeoGold) with my Power Drink and acidophilus to have a healthy gut and be better able to handle the toxic mess our Standard American Diet has become. Remember high levels or the wrong fats from corn and soy etc. set the stage for chronic inflammation. I believe that if this patient wanted to one day eat beef or fish without his allergic reaction without any doubt my F.I.G.H.T.E.M with M.I.C.E. program would get him healthy again and he would not have to suffer these life threatening allergic reactions.

Garry F. Gordon MD,DO,MD(H)
President, Gordon Research Institute
www.gordonresearch.com

Link: http://www.washingtonpost.com/wp-dyn/content/article/2009/10/19/AR2009101902874.html

Excerpt:

MEDICAL MYSTERIES
Man’s Sudden Food Allergy Was a Medical Mystery for Months
By Sandra G. Boodman Special to The Washington Post
Tuesday, October 20, 2009

This cannot be happening again, Hayden Newell thought as the angry, red, ferociously itchy welts encircled his waist and spread up his arms. The 57-year-old metallurgist from tiny Boones Mill, Va., who was attending a business lunch in Florida, knew what would probably happen next: His lips would grow numb, making it hard to speak, he would become short of breath and his blood pressure would plummet: all unmistakable signs of anaphylaxis, a potentially fatal allergic reaction. Newell knew from experience that he had to get to an emergency room — fast.

Dr. Gordon’s comments:

Probiotics are beginning to get the attention they deserve. 

Garry F. Gordon MD,DO,MD(H)
President, Gordon Research Institute
www.gordonresearch.com

Link: http://www.nutraingredients.com/Health-condition-categories/Cognitive-and-mental-function/Could-probiotics-affect-behaviour/?utm_source=Newsletter_Product&utm_medium=email&utm_campaign=Newsletter%2BProduct

Excerpt:

Could probiotics affect behaviour?

By Stephen Daniells, 23-Jun-2009

Increasing knowledge of how the gut and brain is opening up the possibilities for probiotics. At the 5th International Yakult Symposium in Amsterdam, Stephen Daniells met Professor John Bienenstock from McMaster University to find out where the current thinking is with probiotics and brain health. 

Excerpt:

Antibiotic-refractory Lyme arthritis may result from Borrelia
burgdorferi-induced autoimmunity in affected joints. Such patients usually
have certain HLA-DRB1 molecules that bind an epitope of B. burgdorferi
outer-surface protein A (OspA), and cellular and humoral immune responses to
OspA are greater in patients with antibiotic-refractory arthritis than in
those with antibiotic-responsive arthritis. Recent work in a mouse model
suggests that, during B. burgdorferi infection, OspA in genetically
susceptible individuals stimulates a particularly strong T(H)1 response,
which may be one of several factors that can help set the stage for a
putative autoimmune response in affected joints. However, vaccination with
OspA did not induce arthritis in this mouse model, and case and control
comparisons in human vaccine trials did not show an increased frequency of
arthritis among OspA-vaccinated individuals.
Thus, a vaccine-induced immune response to OspA does not replicate the
sequence of events needed in the natural infection to induce
antibiotic-refractory Lyme arthritis.

Excerpt:

An 11-year study of a population of wild sheep located on a
remote island off the coast of Scotland that gauged the animals’
susceptibility to infection may give new insight into why some
people get sicker than others when exposed to the same illness.
The answer to this medical puzzle may lie in deep-rooted
differences in how animals survive and reproduce in the wild,
according to the study, which was led by Princeton ecologist
Andrea Graham and published in the Oct. 29 issue of Science. The
research revealed that the sheep population over time has
maintained a balance of those with weaker and stronger levels of
immunity and fertility. “This is a groundbreaking study that to
my mind will change our whole understanding of the
immunoheterogenity in animal populations,” said Peter Hudson, the
Willaman Professor of Biology and director of life sciences at
Penn State University. “Graham and colleagues show beautifully
the tradeoffs in the immune system as a balance… that maximizes
reproductive output.”

Excerpt:

A new study led by researchers at the University of Copenhagen has confirmed that vitamin D plays an important role in activating immune defenses against infectious diseases like flu.

Vitamin D deficiency has already been linked to a wide spectrum of diseases including heart disease, cancer, diabetes, depression, autoimmune disease and many others.

The study published in the latest edition of Nature Immunology discovers that activation of T-cells to fight infections needs definite help from vitamin D.

Carsten Geisler and colleagues, study authors, explained the role vitamin D plays in the immune responses as follows.

First when the naive T cell recognizes foreign invaders like bacteria or viruses with T cell receptor (TCR), it sends activating signals (1) to the vitamin D receptor gene. The VDR gene then starts producing DVR protein, which binds vitamin D in the T cell (3) and becomes activated. Then the vitamin D bound and activated DVR gets into the cell nucleus and activates the gene for PLC-gamma1 (5), which in turn produces PLC-gamma1 protein (6) and “the T cells can get started”.

Garry F. Gordon MD,DO,MD(H)
President, Gordon Research Institute
www.gordonresearch.com

Full article: http://erj.ersjournals.com/cgi/content/abstract/33/3/586

Excerpt:

Screening for active tuberculosis (TB) and latent TB infection (LTBI) is mandatory prior to the initiation of tumour necrosis factor-  inhibitor therapy. However, no agreement exists on the best strategy for detecting LTBI in this population. The aim of the present study was to analyse the performance of the tuberculin skin test (TST) and QuantiFERON®-TB Gold in-tube (QFT-GIT) on LTBI detection in subjects with immunomediated inflammatory diseases (IMID).

The TST and QFT-GIT were prospectively performed in 398 consecutive IMID subjects, 310 (78%) on immunosuppressive therapy and only 16 (4%) had been bacillus Calmette–Guérin (BCG) vaccinated.

Indeterminate results to QFT-GIT were found in five (1.2%) subjects. Overall, 74 (19%) out of 393 subjects were TST-positive and 52 (13%) were QFT-GIT-positive. Concordance between TST and QFT-GIT results was good (87.7%): 13 were QFT-GIT-positive/TST-negative and 35 QFT-GIT-negative/TST-positive. By multivariate analysis both tests were significantly associated with older age. Only the TST was associated with BCG vaccination and radiological lesions of past TB. Use of immunosuppressive drugs differently modulated QFT-GIT or TST scoring.

“Of the 282 individuals with ASD, 14 (10 males and 4 females) met the modified Walker diagnostic criteria for mitochondrial disease. These individuals tested negative on chromosome microarray analysis, fragile X syndrome, Angelman syndrome, and Rett syndrome, among other tests. Neurological characteristics accompanying their ASD included ataxia, dystonia, seizure disorder, and developmental delay. All 14 demonstrated molecular or biochemical problems.”

And don’t forget that the latest information on Autism will be presented at tomorrow’s conference, which will be of special importance for chiropractors. “We decided that no other doctor was trained in nutrition and natural healing like chiropractors.  I also believe that there is no better vitalistic physician in the world and I love chiropractic. It would be a perfect fit for those called to help these special children.”    Dr. Renee Tocco

Hope For Autism Conference Presents: Autism & Vaccines It Is Not Possible to Make Informed Decisions Without this Information
Presenting:
Mary Tocco – 30 yrs. Independent Vaccine Investigator Alan Phillips – Attorney and Consultant

Topics Covered:  Vaccine Ingredients and Production,
The Autism-Vaccine Connection, HPV and H1N1, Vaccines and Your Rights, Vaccine Exemption and more….

Date: Friday Nov. 13, 2009
Location: Sheraton Charleston Airport Hotel

12:45 – 2:45pm
Raising Children Nature’s Way –
Avoiding Unnecessary Toxins and Interventions

2:45 – 4:45pm
Vaccines:  Parental Rights and Legal Issues- Attorney Alan Phillips

6:00 – 8:30 pm
Vaccines, Autism & Illness…Indisputable Evidence

$25 Pre-paid ($30 at Door)
To Register call 843-766-1969

Garry F. Gordon MD,DO,MD(H)
President, Gordon Research Institute
www.gordonresearch.com
~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~

Disturbed Energy Metabolism May Be a Factor in Some Autism Spectrum Disorders Jacquelyn K. Beals, PhD

October 28, 2009 (Honolulu, Hawaii) — A new study provides evidence of abnormal energy metabolism as an underlying mechanism in some individuals with autism spectrum disorders (ASDs). The report, presented here at the American Society of Human Genetics 59th Annual Meeting, evaluated the prevalence of ASD in a large population with suspected mitochondrial disease, summarized the mitochondrial and nuclear defects, and found “evidence that there is disturbed energy metabolism as an underlying pathological mechanism in a specific subset of patients within the spectrum of ASD.”
ASDs are defined by deficits in social interaction, impaired perception and communication skills, and repetitive behavior. Impairments are usually identified before a child is 3 years old, and often coexist with abnormal cognitive functioning, learning, attention, and sensory processing. Diagnosis is typically reached through clinical observation of development.
Autism is now considered 1 of several ASDs, which also include pervasive developmental disorder not otherwise specified and Asperger’s syndrome. Currently, biological and genetic markers for early identification are largely lacking. A February 2007 Centers for Disease Control and Prevention report estimated the prevalence of ASDs in the United States to be approximately 6.7 children out of 1000, or 0.67%.
Mitochondrial respiratory chain disease (MRCD) is a complex dual-genome disease. Presenter Lee-Jun C. Wong, PhD, from the Department of Molecular and Human Genetics at Baylor College of Medicine in Houston, Texas, noted in her talk that more than 200 genes are targeted to mitochondria, so defects in nuclear and/or mitochondrial genomes can affect mitochondrial function. Disorders can be autosomal recessive or dominant, sex-linked, or maternally inherited. Thus, both MRCD and ASDs are genetically heterogeneous disorders.
“Mitochondria are the only organelles that contain their own DNA. So, in order to be a dual [genome disease], you have to have DNA in the mitochondria involved,” Dr. Wong told Medscape Pathology. She explained that a primary defect can be in the mitochondrial genome, but mitochondria are unable to function alone with just the mitochondrial genome. Nuclear genes are also required, so there will always be interaction.
The current study reviewed the records of more than 4000 individuals evaluated by the Mitochondrial Diagnostic Laboratory at Baylor College of Medicine and the Pediatric Genetics Clinic at Texas Children’s Hospital in Houston. Among more than 4000 individuals suspected of having mitochondrial dysfunction, 282 showed autistic features (ASD). The male/female ratio was close to 1 in those without ASD, but was 1.74 among individuals with ASD. The researchers also found more males than females with suspected MRCD and definite ASD.
Of the 282 individuals with ASD, 14 (10 males and 4 females) met the modified Walker diagnostic criteria for mitochondrial disease. These individuals tested negative on chromosome microarray analysis, fragile X syndrome, Angelman syndrome, and Rett syndrome, among other tests. Neurological characteristics accompanying their ASD included ataxia, dystonia, seizure disorder, and developmental delay. All 14 demonstrated molecular or biochemical problems.
Electron transport chain abnormalities were detected in 8 of the 14 individuals (4 had a common mitochondrial mutation); in addition, 2 females with ataxia and other problems had mutations of the nuclear gene POLG, which functions in the replication of human mitochondrial DNA. Additional nuclear gene mutations among the 14 ASD individuals affected SCO2, TWINKLE, SUCLA2, and other genes involved in mitochondrial DNA depletion. One patient with a homozygous SCO2 mutation also showed COX deficiency; 2 had primary LHON mutations.
“Mitochondria are making energy, but brain function requires a lot of energy,” Dr. Wong said. So we think that if you have mitochondrial dysfunction, you probably also have a brain [that does] not function very well. And that’s what causes the ASD.”
However, the diagnosis of ASD is “so nonspecific that you can almost apply it to anyone,” observed session comoderator Jerry Vockley, MD, PhD, professor of pediatrics at the University of Pittsburgh School of Medicine, professor of human genetics at the Graduate School of Public Health, and chief of medical genetics at the Children’s Hospital of Pittsburgh of UPMC in Pennsylvania, in an interview with Medscape Pathology.
“If you’ve got all these other symptoms and autism spectrum disorder, should you follow-up and look for respiratory chain deficiency? Absolutely!” said Dr. Vockley. “But if you have nothing but autism spectrum disease, mild — even severe — neurointellectual deficits, and no other somatic findings, no neuromuscular findings, no lactic acidosis, nothing on metabolite analysis, is it worth looking for mitochondrial dysfunction? . . . There are no data right now that suggest that it’s worth doing.”
Dr. Vockley feels that a basic neurometabolic screen is reasonable in children with autism, as well as various blood and urine tests, and perhaps even a skin biopsy for enzyme testing.
“But if you don’t have anything on either symptom or metabolite analysis that points to the mitochondria, the next step is very invasive — it’s muscle biopsy. I don’t think that we have the data yet to say . . . that’s a reasonable thing to do,” he said.
“The problem is that both disorders are becoming quite frequently diagnosed. If you look at the fringes of both, the atypical presentations for either, both are frequent enough that eventually they’re goIng to intersect,” noted Dr. Vockley. “The question is: Do they intersect functionally? And we’re not there yet.”

Dr. Wong and Dr. Vockley have disclosed no relevant financial relationships.

American Society of Human Genetics (ASHG) 59th Annual Meeting: Abstract 62. Presented October 22, 2009.