Genetic Testing predicts the progression of Scoliosis and helps
Most orthopedic scoliosis specialists readily agree idiopathic scoliosis is a condition that involves far more and extends well beyond the spinal curvature, which is the primary symptom of the condition. Literally centuries of family history strongly indicate a genetic predisposition to idiopathic scoliosis is being handed down in the same manner as hair and eye color.
More recent and advanced understanding of genetic predispositions reveal genetic insights far more complex than mere dominant and recessive genetic heritage. In fact, it is now clear there is no “scoliosis gene” per se. In fact, the scoliosis condition seems to be a result of multiple genetic variants, or defects, that impact the genetic performance (increased or decreased) resulting in alterations of metabolic pathways. These alterations to the metabolic pathways create the neuro-hormonal conditions that cause idiopathic scoliosis.
Advancements in genetic identification/interpretation, clinical testing, and non-invasive metabolic interventions may allow opportunities for prevention of scoliosis and/or complete arrest of spinal curve progression.
Finding the Scratches in the Record — Genetic Identification & Interpretation of Genetic Variants Related to Idiopathic Scoliosis
The average person is aware of genetics and familiar with the concept of DNA, but the idea of genetic testing is often limited or misunderstood.
Personal genetic testing services like 23andMe and Ancestry provide very accurate and affordable genetic testing results, but very little in the way of interpretation. These testing services are actually testing genetic SNPs (Single Nucleotide Polymorphisms) and looking for known variants, or typos, which affect the gene's performance. While this testing is accurate in detecting the presence of these SNPs, they do not tell you how severe the defects are, or to which metabolic processes they are related.
Some online genetic interpretation services like LiveWello, Genetic Genie, and Tree of Life Solutions have popped up to fill the void; however, they do not solve the complex issue of determining metabolic severity of the detected genetic SNP variant. Also, very significant privacy concerns have now been brought into question as big pharmaceutical companies are forming business relationships with many of these personal genetic testing companies. ScoliSMART labs takes these concerns very seriously and provides a privacy guarantee for all genetic data collected by our testing and military-grade (literally!) server security.
ScoliSMART Labs uses “professional grade” comprehensive genetic interpretation software that can test up to 750% MORE genetic variants than 23andMe.
Targeted clinical testing, based off genetic interpretation, is necessary for confirmation and to determine metabolic severity of genetic SNP defects.
In many cases, genetic testing that identifies SNP variants warrants additional clinical testing. While the genetic testing tells us where to look for problems, it provides relatively little information regarding how severe the problem is and how it is clinically affecting the person. It is not uncommon for a person’s body to create compensation mechanisms or alternative metabolic pathways that can only be assessed with highly targeted urine or blood testing. While there are literally hundreds of clinical tests available, hormone, bone metabolism, and neurotransmitter synthesis are the most critical for determining the impact of genetic SNP variations in scoliosis patients.
Hormone Testing for Scoliosis
Scoliosis development and curve progression is related to periods of rapid growth in adolescent patients, particularly with the introduction of estrogen in female patients. Idiopathic scoliosis affects adolescent females at a rate 7 times that of males. Many have speculated this may be due to a mistiming of spinal cord length related to the increase in spinal elongation due to rapid growth; however, this seems somewhat unlikely in the absence of any other neurological symptoms. Also, adulthood curve progression is linked to the absence of estrogen as patients enter menopause; thus, we see significant curve progression in female patients when estrogen is introduced and when it is removed from the equation throughout the patient’s life cycle.
It seems unlikely anything is fundamentally dysfunctional with the estrogen hormone itself, as female adolescent scoliosis patients generally do not display any other symptoms of estrogen dysfunction, but perhaps more related to estrogen signaling dysfunction. Clinical testing of hormones for scoliosis intended to determine the balance of estrogen in relation to other sex hormones (estrogen, progesterone, testosterone, and DHEA) could provide critical insight to the cause and progression of scoliosis. Adult patients with scoliosis may also benefit from hormone testing for scoliosis in hopes of preventing post-menopause curve progression and improving other menopause-related symptoms.
The ScoliSMART Labs hormone testing for scoliosis consists of a simple home-collection urine test that can be mailed directly to the lab for analysis.
Bone Health Testing for Scoliosis
Bone structure is a big topic in the idiopathic scoliosis conversation, and with good reason. X-ray of the spinal bones (vertebrae) is the primary tool for determination and analysis of the scoliosis condition, and thus receives a large amount of focus and attention in the efforts to treat the condition. Skeletal bone, as virtually all biological tissue does, has a normal metabolic cycle of building and breaking down at a relatively equal rate. It has been speculated skeletal bone in patients with idiopathic scoliosis may grow at 2 to 3 times the normal rate; however, newer data suggests more concern should be paid to the density of the bone in patients' idiopathic scoliosis rather than its rate of growth. Bone density is a function of the metabolic rate (rate of bone building vs. bone breaking down), thus low bone density is simply a result of bone breakdown outpacing bone building.
Skeletal bone itself is comprised of a bone matrix and the minerals that attach to the matrix, which provide bone density. Metaphorically, think of the minerals (calcium, magnesium, phosphorus, etc.) as clothing and the bone matrix as the clothes' hangers. Lack of hangers (bone matrix) leads to all of the clothes (minerals) piled in a heap in the middle of the floor; thus, the evaluation of bone health (rate of bone breakdown vs. bone building) is heavily dependent on maintaining and regulating the bone matrix, as well as the appropriate mineral compounds.
The benefits of improved bone metabolism and increased bone density for adult patients are fairly obvious in terms of osteoporosis prevention, but may also play a critical role in halting further curve progression and stabilizing the lateral listhesis (sideways slipping of the bones in the lower back) often seen in adult scoliosis. The bone health testing offered by ScoliSMART Labs is a home collection urine sample that can be mailed to the lab directly and accurately determines the rate of bone metabolism in patients with idiopathic scoliosis.
Neurotransmitter Testing for Scoliosis
Neurotransmitters are the chemical signals that allow your brain and body to communicate with each other. While the human body makes many different neurotransmitters, the doctors of ScoliSMART Clinics have identified 4 specific neurotransmitters (serotonin, glutamate, norepinephrine, and histamine) and 3 patterns of neurotransmitter imbalances that relate to idiopathic scoliosis. These patterns of neurotransmitter imbalances may be the result of environmental triggers (poor diet) or genetically predisposed food sensitivities leading to inflammation and absorption deficiencies. In either case, clinical data strongly suggests improved neurotransmitter levels have a significant impact on patient outcomes in a scoliosis rehabilitation program, and it is theorized it could also lower the risk of further curve progression during times of adolescent growth.
Current clinical data strongly suggests monitoring neurotransmitter imbalances could be utilized as a quick, cheap, non-invasive way of predicting curve progression during adolescent growth. In addition to positive effects on the scoliosis condition, adolescent and adult patients alike report improvements in energy levels, mood, and quality of sleep (among other benefits) when neurotransmitter levels are properly balanced.
ScoliSMART Labs offers scoliosis-specific neurotransmitter testing with a home-collection urine test that can be mailed directly to the lab.
Metabolic interventions, determined by targeted clinical testing, may allow new opportunities for prevention of the idiopathic scoliosis condition and halting of further curve progression in current patients with idiopathic scoliosis.
Surgical Hardware Sensitivity Testing
Spinal fusion surgery for scoliosis involves the use of metal hardware manufactured from different metallic compounds. Unfortunately, many patients are unknowingly sensitive to these surgical metals, and can develop unrelenting allergic responses to them once they are implanted. Exposure to metal surgical hardware can lead to health problems in sensitive patients. This test can positively identify elevated levels of these surgical metals circulating through the blood stream, which may be a risk factor for developing allergic reactions. This test looks at the circulating blood levels of the six metals that are most commonly associated with metal surgical implants. This metal debris may be associated with excessive physical wear or corrosion of the metal alloys.
Children and adults with metal hypersensitivity may develop symptoms such as chronic fatigue, joint pain, muscle pain, depression, headaches, skin rashes, and mood changes. Metal allergy is actually well-recognized in instances where the surgical hardware failed, as often occurs after scoliosis fusion surgery. Therefore, the need for this testing post-surgical patients is recognized by both surgical hardware manufacturers as well as the surgeons using them. In fact, the occurrence of metal allergy in patients with hardware implanted is significantly higher than in the general population, and even higher in cases where the surgical hardware broke or failed.
For those patients who have had scoliosis fusion surgery, or any surgery involving metal implants, the American Academy of Orthopaedic Surgeons recommends assessment of circulating metal levels for patients with certain surgical implants annually if they're asymptomatic, and every 4-6 months if they're having pain or any of the above symptoms.
Treating Scoliosis with Nutrient Therapies
Genetic testing can tell us where to look for the most likely underlying causes of idiopathic scoliosis and its progression, and targeted clinical testing can tell us how severe those underlying issues are affecting the patient. Then, metabolic interventions are the opportunity to use this highly specific information to alter the natural course of the idiopathic scoliosis condition.
Non-drug nutrient therapies are used to support, re-balance, or replace neurotransmitters, hormones, or other activator molecules scoliosis patients are genetically unable to produce adequately. The nutrient therapies often consist of pre cursor molecules in the form of amino acids, enzyme activators, or metabolic end products in cases in which patients simply cannot produce the necessary hormone or neurotransmitter. In certain cases, lifestyle modifications may be recommended to aid and assist in the metabolic intervention process, such as limiting dietary gluten or dairy products.
Genetically guided clinical testing and non-drug nutrient therapies are a new and innovative approach that adolescent and adult patients alike should strongly consider including as part of their overall treatment strategy. This new approach, designed to target the underlying metabolic issues associated with idiopathic scoliosis, is the first attempt to reach the whole scoliosis condition and not just the spinal curve, which is the primary symptom of the condition.