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Back Pain: Genetics, root causes, and solutions

For some people, back pain is a daily occurrence that drastically affects their quality of life. For others, it may be an intermittent nagging problem popping up occasionally, often without rhyme or reason.

This article digs into the root causes of back pain, degenerative disc disease, and the genetic variants that increase susceptibility. There is no single ‘back pain gene’, but genetics plays a role both in the degeneration of the disc and whether you feel the pain. I’ll finish up with some possible solutions that target specific genes. Members will see their genotype report below, plus additional solutions in the Lifehacks section. Consider joining today 

What causes back pain?

If you are like me, you may have thought back pain was always a mechanical or structural type of problem — something is broken down in the back that hurts. We talk about it as a mechanical problem: “I was moving a piano yesterday, and I threw out my back.” (Or, more realistically, for people that I know: “I was sitting on the couch… reached to grab a blanket and threw out my back.”)

But that isn’t all that there is to the story. It turns out that the majority of people by middle age have disc degeneration. But most don’t have pain from it. Piano movers can move that piano all day long and be perfectly fine; someone else might step off of a curb wrong – and be in pain for months. And yes, your genes are involved.

Mechanics of your back:

The spine. (Public domain image)

The spinal column is made up of 33 vertebrae, separated by spongy discs.

  • The first 7 vertebrae are the cervical spine (your neck).
  • The next 12 vertebrae are called the thoracic vertebrae (chest area).
  • The lumbar region comes next with 5 vertebrae.
  • The final five vertebrae are called the sacral spine (includes the 4 vertebrae that make up your tailbone).

In between the vertebrae are the discs that are made up of connective tissue. The outer part of the disc is called the annulus fibrosus, which is a tough yet flexible material. The inner part of the disc is called the nucleus pulposus, which is more a gel-like material.

Image showing the structure of vertebrae and disc. (Creative Commons license – Anatomy & Physiology, Connexions website)

The annulus fibrosus is made up of layers of cartilage that is made from type I and type II collagen. The nucleus pulposus consists of loose fibers suspended in a gel. This acts as a shock absorber for the spine. The composition of the extracellular matrix making up the gel includes a couple of types of collagen and specific glycoproteins.

What causes the pain?

There are several different elements at play in back pain:

  • physical disc degeneration
  • the nervous system with pain receptors
  • the inflammatory response

We are all different in our genetic variants in the genes coding for inflammatory cytokines, collagen formation, and autophagy (the cleanup and recycling of cellular waste).

Back pain can come from a combination of those sources – inflammation, altered collagen in the extracellular matrix, and oversensitive pain receptors. These causes work together. For example, inflammatory cytokines can cause the breakdown of the extracellular matrix of the disc. Excessive autophagy can cause cell death which increases inflammatory cytokines.[ref]

Herniated or slipped disc: 

You will often hear people talk about a slipped disc, which brings to mind a terrible picture of a vertebra off to one side.

A herniated or slipped disc refers to when part of the nucleus pulposus protrudes through the annulus fibrosus (see the picture above).

The terminology is a bit misleading here because nothing is really ‘slipped’, more of a bulging in one direction.

Disc degeneration: 

Lumbar (lower back) disc degeneration is caused both by genetics and by environmental or physical factors. Researchers actually estimate that genetic factors are more important than environmental factors.

A lot of people have disc degeneration – and don’t know it! They have no pain or symptoms.

Researchers looked at the MRIs of individuals without lower back pain compared to MRIs of people with lower back pain — and came up with interesting results! Of the people without lower back pain, 64% had disc degeneration. In the study, half of the people with disc degeneration had bulging discs, and about a quarter had protrusions.[ref]

Why does disc degeneration cause pain only for some people? Elevated inflammatory cytokines may be the answer.

Interestingly, there is a link between bacterial infection and disc degeneration. Researchers had suspected for more than a decade that a portion of diseased discs was due to chronic infection from Propionibacterium acnes. (This is one of the bacteria that causes acne on the skin.)

Quite a few studies have shown that Propionibacterium acnes is present in disc degeneration, but there was always a question of whether the bacteria could have been contaminated from the skin instead of colonizing the disc material. A recent study has put this question to rest. It looked at samples of 162 discs from people undergoing surgery for disc herniation. The samples showed that 44% of the discs had bacteria in them, with most of those having Propionibacterium acnes in them. Furthermore, the samples showed high levels of bacteria and biofilms having formed in the disc material.[ref]

Genetic studies back up this connection. Some of the same genetic risk variants for acne also increase the risk of disc degeneration.

What is sciatica?

Pain, numbness, and tingling shooting down your hip and leg can be caused by a herniated lumbar disc pressing on the sciatic nerve. There are other possible causes as well, including the piriformis muscle in the butt constricting the nerve. Sciatica can be extremely painful and aggravating.

Genetic studies using twins estimate the genetic component of sciatica could be as high as 40%.[ref]


Back Pain Genotype Report

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Lifehacks: Natural solutions for back pain

I’m going to assume that if you have back pain, you’ve probably tried various pain relievers (NSAID’s, aspirin) and either a heating pad or ice pack already… Hopefully, you have already looked into stretches and gentle exercise options as well. Instead, this section will focus on some more targeted therapies. This is all for informational purposes only – talk with a doctor if you have questions.

Natural Ways to Target Inflammation in Back Pain:

If you have disc disease and your genetic susceptibility lies in the inflammatory genes (IL1A, IL6), here are ways of decreasing those inflammatory pathways:

Photobiomodulation, also known as low-level laser light therapy, reduces IL1B and IL6 levels at some wavelengths.[ref] Note that this is dependent on the wavelength used, with some wavelengths upregulating IL6.[ref][ref] Photobiomodulation seems like a powerful therapy option, but one that needs to be done correctly.[ref][ref]

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Why join Genetic Lifehacks?

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~ You'll see your genetic data in the articles and reports.

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About the Author:
Debbie Moon is the founder of Genetic Lifehacks. Fascinated by the connections between genes, diet, and health, her goal is to help you understand how to apply genetics to your diet and lifestyle decisions. Debbie has a BS in engineering from Colorado School of Mines and an MSc in biological sciences from Clemson University. Debbie combines an engineering mindset with a biological systems approach to help you understand how genetic differences impact your optimal health.