Degenerative Disc Disease (DDD) is a prevalent condition that causes chronic pain and disability in individuals, whether as a consequence of age or other factors like their daily activities, injuries, or medical conditions. But as researchers delve into the understanding of this degenerative disorder, the question of its hereditary component arises, too.
Numerous studies have been conducted that have revealed specific genes associated with an increased risk of developing DDD. This article aims to explore the existing body of knowledge surrounding the genetic predisposition to DDD, shedding light on potential preventive measures and targeted treatments.
Understanding the hereditary factors involved in DDD could enhance early detection and treatment strategies for those at risk.
What is Degenerative Disc Disease?
Although it’s called a disease, degenerative disc disease (DDD) is not an actual one but rather a condition that primarily affects the discs in your spine. These plates act as shock absorbers between the vertebrae, helping to maintain flexibility and cushioning. As these shock absorbers degenerate, they can cause a variety of symptoms, including chronic pain, stiffness, and limited mobility.
DDD is commonly associated with aging, wear and tear, and repetitive stress on the spine. While DDD can occur in anyone, it is more commonly seen in individuals over the age of 50. Research suggests that approximately 40% of people between the ages of 40 and 59, and a staggering 80% of those aged 80 or older, have some degree of degenerative disc disease. Interestingly, studies have found that men tend to have slightly higher rates of DDD compared to women. However, it is important to note that these statistics may vary depending on the specific population being studied and the diagnostic criteria used.
If you are experiencing back pain, stiffness, or difficulty with movement, DDD may be the cause. It is always recommended to consult with a healthcare provider or spine health professional to receive an accurate diagnosis and discuss the most suitable treatment options for your individual circumstances.
Common Symptoms of Degenerative Disc Disease
Characterized by chronic pain and limited mobility, degenerative disc disease or lumbar disc degeneration disease is often accompanied by symptoms such as herniated discs and spinal stenosis. These symptoms can vary in severity depending on the individual and the location of the affected discs.
Some common symptoms of degenerative disc disease include:
- Persistent or intermittent back pain: This can range from mild discomfort to severe, debilitating pain.
- Radiating pain: The pain may radiate down the legs or arms, depending on which discs are affected.
- Numbness or tingling: This can occur in the legs, feet, arms, or hands.
- Muscle weakness: Weakness in the muscles surrounding the affected discs may occur.
It is important to note that while degenerative disc disease can be influenced by genetic factors, lifestyle choices, and environmental factors also play a significant role in its development. Understanding the symptoms can help individuals seek appropriate medical attention and treatment for degenerative disc disease.
What Previous Studies Say About Genetic Predisposition to DDD
Previous studies have provided insights into the potential genetic predisposition to degenerative disc disease (DDD). It is believed that genetic influences play a significant role in the development of DDD, particularly in lumbar disc diseases. Several studies have identified specific genes and alleles associated with intervertebral disc degeneration and lumbar disc herniation.
One study found that a variant of the COL11A1 gene (which we’ll detail later) was more prevalent in individuals with lumbar disc degeneration, for example. Meaning that this specific gene could also mean a genetic predisposition to lumbar disc disease. Other studies have identified a link between several other genes and the risk of developing DDD.
These findings suggest that certain genetic factors may contribute to an individual’s susceptibility to DDD. Let’s take a deeper look into this aspect of DDD.
Genetic Factors and DDD
Genetic risk factors play a significant role in the development of degenerative disc disease (DDD). Chinese population studies have been one of the top sources of breakthroughs in this area, with other genetic association studies throughout the world adding to the research.
Genetic association studies have identified specific genes, such as the Vitamin D receptor gene, Collagen IX, and Aggrecan (AGC1), that are associated with DDD. These genes are involved in the regulation of disc metabolism, structure, and repair, highlighting their potential role in the hereditary nature of DDD.
Vitamin D Receptor Gene
The role of the Vitamin D receptor gene in the development of degenerative disc disease has been extensively studied and researched.
Here are four key points regarding the Vitamin D receptor gene and DDD:
- Twin studies have shown that there is a hereditary component to DDD, with genetic factors accounting for around 75% of the risk.
- Genetic variants of the Vitamin D receptor gene, known as nucleotide polymorphisms, have been found to be associated with an increased risk of DDD. In fact, you’ll find in many studies mentions of a multitude of genetic variants responsible for DDD all over our genome, and these vitamin D receptor gene polymorphisms are just one of them
- The Vitamin D receptor gene is involved in the regulation of various cellular processes, including those related to the health and maintenance of intervertebral discs.
Further research is needed to fully understand the specific mechanisms by which variations in the Vitamin D receptor gene contribute to the development of DDD.
Collagen IX
Numerous genetic studies revealed a significant association between variations in Collagen IX and the development of degenerative disc disease (DDD), highlighting the pivotal role of this genetic factor in the susceptibility to the condition.
Collagen IX is a protein that is primarily found in the intervertebral discs of the spine. These act as cushions between the vertebrae, providing flexibility and shock absorption to the spine. Any abnormalities or mutations in the Collagen IX gene can lead to structural changes in the intervertebral discs, making them more prone to degeneration. This can result in the development of DDD.
Researchers have identified specific variations in the Collagen IX gene that are associated with an increased risk of developing DDD. Understanding the role of Collagen IX in the pathogenesis of DDD may allow for the development of targeted therapies to prevent or slow down the progression of the disease.
Aggrecan (AGC1)
Identifying variations in the Aggrecan (AGC1) gene has been crucial in understanding the genetic factors involved in the development of degenerative disc disease (DDD). Aggrecan is a protein found in the intervertebral disc, which provides cushioning and flexibility to the spine. Functional studies have shown that certain variations in the AGC1 gene can lead to a decreased production or function of aggrecan, resulting in the breakdown of the intervertebral discs and the development of DDD or intervertebral disc disease.
To emphasize the importance of the Aggrecan (AGC1) gene in DDD:
- Variations in the AGC1 gene have been associated with an increased risk of disc bulge and intervertebral disc disease.
- Reduced levels of aggrecan caused by AGC1 gene variants can lead to the degeneration of the intervertebral discs in the lumbar spine, leading to lumbar disc degeneration.
- Mutations and common variants in the AGC1 gene have also been linked to the development of spinal stenosis, a condition characterized by the narrowing of the spinal canal.
Understanding the role of the AGC1 gene in DDD may help in the development of targeted therapies to prevent or treat this degenerative condition.
Other Genetic Influences
One other study identified specific susceptible genes that are associated with the breakdown of discs that can lead to intervertebral disc disease. These genes are involved in processes such as extracellular matrix formation and maintenance, which are crucial for the health of the discs.
Another study identified a link between the ADAMTS5 gene and the risk of developing DDD. Then, there are genetic variants of the MMP3 gene that have been associated with an increased risk of lumbar disc degeneration.
Other studies have focused on the role of genetic variations in the vertebral body and its impact on disc degeneration. All of these findings suggest that genetic factors play a significant role in the development of DDD or lumbar disc degeneration, highlighting the importance of understanding the genetic basis of this condition for potential prevention and treatment strategies.
Other Causes of DDD
However, it is important to note that genetic predisposition is just one aspect of the complex nature of DDD, and environmental factors and lifestyle choices also play a significant role in its development.
Apart from genetics, there are several other factors that can contribute to the development of degenerative disc disease:
Aging
As we age, the discs in our spine naturally degenerate and lose their ability to cushion the vertebrae. Age increases our susceptibility to lumbar disc herniation with every little injury we get and other issues, but it’s not a given that we all will have DDD.
Obesity
Excess weight puts additional stress on the spine, leading to increased wear and tear on the spinal discs.
Injury or trauma
Accidents or injuries that affect the spine can cause damage to the discs, leading to degeneration.
Poor posture
Consistently maintaining poor posture, such as slouching or hunching over, can put a strain on the discs and accelerate degeneration.
Understanding these additional causes of degenerative disc disease can help individuals take proactive measures to reduce their risk and maintain spinal health.
Best Treatments for DDD
Effective treatments for degenerative disc disease include both non-surgical and surgical options. Non-surgical treatments focus on alleviating pain and improving function. These may include physical therapy, chiropractic care, acupuncture, and medication.
Physical therapy can help strengthen the muscles surrounding the spine and improve flexibility.
Chiropractic care involves manual adjustments to the spine, which can provide pain relief, although only temporarily and for certain mild conditions.
Medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) and muscle relaxants can help manage pain and inflammation.
In more severe cases, like lumbar disc herniation, surgery may be necessary. Surgical options include spinal fusion, disc replacement, and artificial disc implants. These procedures aim to stabilize the spine and relieve pain.
It is important to consult with a healthcare professional to determine the most suitable treatment for each individual case of degenerative disc disease.
Dr. Hamid Mir is a board-certified orthopedic spine surgeon with fellowship training in combined neuro and orthopedic spine surgery techniques who is based in Orange County, CA. He has 18 years of experience in minimally invasive spine surgeries using advanced microscopic techniques.
With his expertise, compassionate approach, and medical team, you can trust Dr. Mir to guide you through the diagnosis, treatment, and recovery process, ensuring the best possible outcomes for your spinal health. Don’t wait; schedule your appointment today and take the first step towards a healthier spine.
By seeing certified orthopedic spine surgeons in Dana Point, CA like doctor Hamid Mir immediately after diagnosis, you can access the best available treatment options and receive comprehensive care tailored to your specific needs, ultimately improving your quality of life and minimizing the impact of degenerative disc disease on your daily activities.