If your child has been diagnosed with scoliosis, you may have heard the term “idiopathic” used to describe their condition. This medical term essentially means the cause is unknown. However, emerging research is beginning to uncover genetic factors that may influence not just whether scoliosis develops, but also how it progresses.
One area of growing interest involves the COMT gene. Recent research suggests that mutations or variants in this gene, particularly when combined with other genetic factors, may play a role in scoliosis progression.
What Is the COMT Gene?
COMT stands for catechol-O-methyltransferase, an enzyme involved in breaking down certain neurotransmitters in the body, including dopamine, epinephrine, and norepinephrine. These chemicals play important roles in everything from mood regulation to pain perception to muscle function.
The COMT gene provides instructions for making this enzyme. Like all genes, COMT can have different variants or mutations that affect how well the enzyme functions. Some variants result in higher enzyme activity, while others result in lower activity, influencing how quickly these neurotransmitters are broken down in the body.
Why does this matter for scoliosis? The connection isn’t immediately obvious, but researchers have discovered that these genetic variants may influence spinal development and the body’s connective tissue structure, both of which are relevant to scoliosis.
The Research: COMT Variants and Scoliosis Progression
A 2025 study published in the Journal of Genomics examined the relationship between COMT genetic variants and adolescent idiopathic scoliosis progression. The research focused specifically on how COMT variants, particularly when combined with MTHFR (another gene involved in folate metabolism), might influence whether a scoliotic curve worsens over time.
Key Findings from the Research
The study found that certain COMT gene variants were associated with an increased risk of curve progression in adolescents with idiopathic scoliosis. Even more interesting, the research revealed that when COMT variants were present alongside MTHFR variants, the combined effect significantly influenced progression risk.
This suggests that scoliosis progression isn’t controlled by a single gene but rather involves complex interactions between multiple genetic factors. The research indicates that patients carrying specific combinations of COMT and MTHFR variants had different progression patterns compared to those without these variants.
Understanding COMT Gene Variants
COMT gene variants are relatively common in the general population. The most studied variant involves a single change in the genetic code that affects how efficiently the enzyme works.
High-activity vs. Low-activity Variants
Some people have COMT variants that result in faster breakdown of neurotransmitters (high activity), while others have variants that result in slower breakdown (low activity). These differences can influence various aspects of health, from stress response to pain sensitivity.
In the context of scoliosis, researchers theorize that these variants may affect:
- Connective tissue metabolism and collagen formation
- Bone density and skeletal development during growth
- Muscle tone and spinal support structures
- The body’s response to mechanical stress on the spine
The research on COMT and scoliosis progression adds to growing evidence that genetic factors play a more significant role in idiopathic scoliosis than previously understood.
The MTHFR Connection
The study also highlighted the importance of MTHFR gene variants. MTHFR (methylenetetrahydrofolate reductase) is an enzyme involved in processing folate (vitamin B9) and regulating homocysteine levels in the body. Variants in this gene are also quite common.
When COMT and MTHFR variants occur together, their combined effect appears to influence scoliosis progression more significantly than either variant alone. This gene-gene interaction suggests that the biological pathways involved in scoliosis development and progression are interconnected in complex ways.
Both genes are involved in methylation, a crucial biochemical process that affects gene expression, detoxification, and cellular function. Disruptions in these pathways may impact bone health, connective tissue formation, and the structural integrity of the spine during critical growth periods.
What This Means for Patients with Scoliosis
Understanding the genetic factors behind scoliosis progression has several important implications:
- Improved Risk Assessment: Genetic testing for COMT and MTHFR variants could potentially help identify which patients are at higher risk for curve progression. This information might guide more personalized monitoring schedules and earlier intervention when needed.
- Targeted Treatment Approaches: If genetic variants are influencing progression, treatment strategies might eventually be tailored based on a patient’s genetic profile. For example, patients with certain variants might benefit from more aggressive bracing protocols or specific nutritional interventions.
- Better Understanding of “Idiopathic” Scoliosis: As research identifies more genetic factors, the term “idiopathic” becomes less accurate. What we once thought was unexplained may actually have identifiable genetic underpinnings, opening doors for more targeted research and treatment development.
- Family Screening Considerations: Since genetic variants are inherited, understanding a patient’s genetic profile might inform screening recommendations for siblings or other family members who could be at increased risk.
Current Limitations and Future Directions
While the research on COMT and MTHFR variants in scoliosis is promising, it’s important to understand that we’re still in the early stages of genetic research for this condition.
What We Don’t Yet Know:
Genetic testing for COMT and MTHFR variants is not yet a standard part of scoliosis evaluation. The research is still evolving, and more studies are needed to:
- Confirm these findings in larger, more diverse populations
- Understand the exact biological mechanisms linking these variants to progression
- Determine whether genetic information meaningfully changes treatment recommendations
- Identify other genes that may be involved in the process
The Role of Environment and Lifestyle:
Even with genetic variants present, environmental factors, lifestyle choices, and other biological influences play significant roles. Not everyone with COMT or MTHFR variants develops scoliosis, and not all curves progress even when these variants are present. Genetics provides part of the picture, but it’s not the whole story.
The Current Standard of Care for Scoliosis
While genetic research is advancing, treatment for adolescent idiopathic scoliosis continues to be guided by well-established clinical principles:
- Monitoring: Regular evaluation of curve progression through physical examination and X-rays remains the cornerstone of management, especially during growth years.
- Bracing: For moderate curves in growing children, bracing can prevent progression and reduce the likelihood of needing surgery. Compliance with brace wear is crucial for success.
- Surgical Intervention: When curves exceed 45-50 degrees or continue progressing despite conservative treatment, surgery provides definitive correction and prevents further worsening.
Dr. David Siambanes utilizes advanced surgical techniques and instrumentation systems, including the Daytona Deformity System, to achieve optimal outcomes for patients requiring surgical treatment. His extensive experience with complex spinal deformities ensures that each patient receives individualized care based on their specific curve pattern and needs.
Expert Scoliosis Care Grounded in Current Research
At Scoliosis Care, Dr. Siambanes combines decades of clinical experience with an understanding of the latest research developments in spinal deformity treatment. As the director of the scoliosis center at St. Joseph’s Children’s Hospital and founder of Scoliosis Care, he provides comprehensive evaluation and treatment for all types of scoliosis in children and adults.
Dr. Siambanes understands that each scoliosis case is unique, influenced by factors we can measure (like curve magnitude and skeletal maturity) and factors we’re still learning about (like genetic predisposition). His approach emphasizes thorough evaluation, clear communication with families, and treatment plans tailored to each patient’s individual circumstances.
Whether your child has been newly diagnosed or you’re seeking a second opinion about progression and treatment options, specialized expertise makes a difference in outcomes and peace of mind.
Comprehensive Scoliosis Evaluation in Tampa Bay
If you’re concerned about scoliosis progression or want to understand all factors that might influence your child’s curve, expert evaluation is the next step. Dr. Siambanes serves families throughout the Tampa Bay region, including Tampa, St. Petersburg, Clearwater, Brandon, Wesley Chapel, and surrounding communities.
Contact us today to schedule a consultation.
