“Scoliosis runs in families” is a common phrase mentioned by patients and doctors alike, but is it true? Family history can be a useful tool, but it has limits. The research finds children with a direct relative with scoliosis has 29% (female) and 9% (male) risk of developing scoliosis. This is higher than the 3-5% of the general population that develop scoliosis, it is far less than 100% genetic inheritance.
This begs the question, is scoliosis hereditary or genetic? The answer is both, but mostly hereditary. Although many people use the two words as if they are the same, they are actually very different.
How are genetic and hereditary conditions different?
In a nutshell, genetics is the study of heredity. Heredity is the study of passing genetic combinations onto future generations. The only multi genomic variant study published on idiopathic scoliosis has identified 28 variant groups related to scoliosis. These genomic functional groups create patterns producing the scoliosis condition. Different patterns produce different combinations. Each lead to a different set of genetic deficiencies. Some combinations do not result on scoliosis. Other combinations produce non-processive scoliosis. Unfortunately, a few of the combinations lead to progressive scoliosis. Sometimes severe spinal curves.
Idiopathic scoliosis is both genetic and hereditary. Many genetic variants make up 28 genomic variant groups. Different combinations of genomic variant groups create patterns. Certain patterns produce idiopathic scoliosis. progressive and non-progressive curves. Heredity will pass these patterns onto future generations who will develop idiopathic scoliosis.
What is the difference between a genetic variant and a genomic functional group?
The words we use to describe things matters. This is because different words have different meanings. Different meanings change the whole meaning of the sentence. That changes the whole conversation. Genetics is the study of a single gene. Genomics is the study of all the genes. A genomic functional group is a group of genetic variants organized according how they function together. For example, 50 genes may all work together to make a hormone. Each of these genes create a functional group. If enough or specific genetic variants exist in this group, it may make it difficult of that person to make that hormone. By organizing the genetic variants into genomic functional groups, we can begin looking for patterns.
Pattern recognition can help us predict who will get scoliosis. It may even help predict who will have progressive spinal curves. We can also recommend very specific nutrient therapies for each pattern. This allows for personalized nutritional interventions for scoliosis.
How are genetic and hereditary conditions different?
Understanding the difference between a genetic condition and a hereditary condition is important. A genetic condition is single gene problem. It is also generally a single person event as well. The BRCA1 and BRCA2 are examples of a genetic condition. They only affect those genes. New technology like gene replacement therapy may be of great help for these cases.
There is no single “scoliosis gene”. The cause of idiopathic scoliosis is patterns of many genetic variants (genomic). These patterns are often passed onto their children (hereditary) producing the scoliosis condition. Idiopathic scoliosis is a hereditary condition when both parents provide specific genetic patterns. Genetic replacement therapy like CRISPR will not help hereditary conditions.
Current understanding of scoliosis inheritance
Idiopathic scoliosis is an inherited condition, not a genetic condition. Genomic testing can identify genetic variants (much like scratches on a record). These genetic variants decrease a gene’s ability to do its job. Functional groups organize the variants that all work together that make a specific thing for the body (hormones, enzymes, ect).
Patterns of 28 functional groups cause idiopathic scoliosis. Very accurate genomic testing can identify these patterns in people with or without scoliosis. This testing could be a screening tool to find kids “at risk” for developing scoliosis. Very specific nutrient interventions could prevent development of scoliosis. Kids and adults diagnosed with scoliosis could use genomic variant testing as well. The discovery of their personal functional group patterns provides information for nutritional therapies. This may slow or prevent spinal curve progression.
It is very important to note these genomic functional groups also have other negative impacts on one’s health. Here are some examples.
The MCM6 functional genomic variant group. This are the genes that code for the enzyme that breaks down lactose, the sugar in milk. People with this variant group develop intestinal inflammation when they ingest dairy. The intestinal inflammation leads to “leaky gut syndrome.” This decreases nutrient absorption.
The FUT2 functional genomic variant group inhibits one’s ability to maintain a normal intestinal flora. Intestinal flora is the normal good bacterial in your gut. This is important for gut protection form bad bacteria and nutrient breakdown.
The PANK1-4 functional genomic variant groups decrease the ability to make serotonin. Low serotonin may lead to depression.
The HRH1-4 functional genomic variant groups could cause over production of histamine. This may lead to allergy symptoms and systemic inflation.
The SHMT functional genomic variant group causes B vitamins not to activate. This results in widespread neurotransmitter problems.
Nutrient interventions and therapies for scoliosis
Here is the good news. Inherited conditions like scoliosis respond well to very targeted nutrient interventions and therapies. By pin pointing the exact genomic variant groups, we can recommend the exact supplements. This allows for the most effective and complete treatment of the scoliosis condition. Not only the spinal curve symptom. The nutrient therapies are safe, affordable, and available for most people. For example, patients with PANK1-4 variant groups can take a B5 supplement. Those with the SHMT can take pre-activated B vitamins.
Dietary restrictions and lifestyle changes can also be very helpful. Many times, avoiding certain foods or eating things like local honey can help. Patients with the MCM6 variant group should avoid eating dairy. Those with the FUT2 variant group can take a probiotic. People with the HRH1-4 variant groups can consume local honey to offset the effects.
The understanding of idiopathic scoliosis as a hereditary condition opens a whole new world of treatment options. Specialized genomic functional group testing is a big step forward. Combined with very specific nutrient therapies could lead to prevention and better treatment for scoliosis.