Butterf!lies and Multiple Sclerosis

 

New youtube channel.     Youtube.com       Everchangingms

                                 Butterflies and MS

Why even call or say something like this? Seems strange on its own, but I. Am sure everyone can relate.

"The life cycle of a Painted Lady butterfly is approximately three weeks. Female butterflies usually lay their caterpillar eggs around 5-7 days after emerging from their chrysalis. Baby caterpillars hatch from the eggs after three days. The growing caterpillars will then eat for 10-12 days before forming their own chrysalides. Finally, adult butterflies will emerge from the chrysalides after 7-10 days, starting the life cycle all over again!"

What does this have to do with MS?  There is a term used like I have "butterflies in my stomach", usually referring to the unknown, or a churning feeling given at any moment.  This can manifest into the above cycle of learning, exploring, and redoing the same as new items are found.

RimabotulinumtoxinB (Myobloc), also called botulinum toxin type B, is made from the bacteria that causes botulism. Botulinum toxin blocks nerve activity in the muscles, causing a temporary reduction in muscle activity.

Myobloc is used to treat cervical dystonia (severe spasms in the neck muscles).

I have many unknowns with Primary Progressive Multiple Sclerosis. This includes waking up with shooting zaps from my legs and neck muscles, wondering if they will support me.  On other blogs, I talk about the 

                                  Black Box Warning.

This is for  botulinum toxin type b I recieve every three months. Its cycle is like a butterfly. Mine is injected with fine needles into many muscles of my calves, neck and thigh muscles. The botulinum toxin then starts to spread over the next few weeks, making its cycle of reproduction into, deadening overactive muscle nerves that are part of my Multiple Sclerosis sending to them erroneously.

symptoms can also occur in adults treated for spasticity and other conditions, particularly in those patients who have underlying conditions that would predispose them to these symptoms. In unapproved uses, including spasticity in children and adults, and in approved indications, cases of spread of effect have occurred at doses comparable to those used to treat cervical dystonia and at lower doses.

The botulinum toxin continues its life cycle, for me, lasting about 52 days. Short of the 90 days, that is required to wait for the next injections, or new cycle to begin. 

Even on with a computer guidance system, the professor of the Neurological department, knows which muscles, injections, spots, muscle names, and where he is trying to obtain the best result, using the entire allotted amount of botox in many sites.

Of course, not all sites get addresses at a single visit. It takes time for the botox to multiply and travel into and thru the muscles. A Cane helps me walk into and out of his office, feeling immediately the botox injection.

A black box warning

The botulinum toxin contained in this medication can spread to other body areas beyond where it was injected. This can cause serious life-threatening side effects.

This is where the benefits outweigh the risks for me. A special form is signed by me before the neurologist can inject.

A weird process to look forward to, that I just had done, and done since the beggining of my diagnosis, every three months.

 And the butterfly process begins again.

As far as butterflies in my stomach, is always the unknowns. I can research many items. Some outside my control, some just numbers that specialists look at from blood work.

There are items I share with my Neurologist, I will post links in another blog to keep you reading. They thank me for the links, as it pertains to the Rare H63d genes I have, and also  to specific topics. You (my audience) gets to wait until I see the proper specialists, so I can obtain their perspective.

Anyways, thanks for reading!

Post comments below, or on my new YouTube channel by looking for Everchangingms on YouTube.    Everchangingms 

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Stay Safe

JoeY

MS, H63D Hemochromatosis Are Associated with Primary Hypertriglyceridemia

Hypertriglyceridemia the thought of the day.

 The association with Multiple Sclerosis, the H63D gene mutations, and what it is.

high level of a certain type of fat (triglycerides) in the blood.

• Treatable by a medical professional
• Requires a medical diagnosis
• Lab tests or imaging always required
• Chronic: can last for years or be lifelong

Elevated triglycerides may contribute to many items,  much to many to get people excited without blood tests, and talk about in this blog.  My next blood tests are at the end of the year, followed up in January 2021 by a endocrinologist, my cancer Doctor, GP, and heart Dr., along with others.

Most people with elevated triglycerides experience no symptoms.

https://academic.oup.com/jcem/article/94/11/4391/2596710

Mutations in HFE Causing Hemochromatosis Are Associated with Primary Hypertriglyceridemia

My Journey through Hypertriglyceridemia goes on for years now. When the levels of Iron were extremely high the summer of 2018, my tryglicerides were also in the Hypertriglyceridemia stage. The inter relationship of this and high iron , Hemochromatosis, caused by the the gene mutations of both H63D genes, is quite rare, and listed in rare diseases.

When my first thru seventeen phlebotomy or vein puncture were done to remove blood from me weekly, that started October 2018, my mind set was on the rare H63d genes involved, and the iron.

My Tryglicerides dropped in half after the phlebotomy, or vein punctures were done early 2019.  But that still left me with Hypertriglyceridemia going on.  My Heart Dr tried a drug known as Fenofibrate with me. Since the Heart is a muscle, and can be affected by multiple Sclerosis, he has been thru me on this entire journey as part of my "MD Team"

For those now curious, my heart Has always been fine. EKG done many times by many Drs. A Echo of the heart is done yearly, always looking good.  My Cholesterol levels looks great. My Heart Races like I am in a Marathon, even if sitting still. This is caused by MS.

I use a app, my heart or blood pressure designed by 

Http:www/Klimaszewski.mobi

Great app. I use a cuff on arm to put data into this App, or data from different Drs gives me many results. Shows when I was put on a heart pill, to lower readings, and data back many years. Of highs and lows.  This shows a GP not giving me a EKG, and his report even shows how high. It was my first and last appointment with him.

The Fenofibrate I became extremely allergic to. I was one of less than 3% that had a negative reaction, being caught by my Endocrinologist. Three days off, dropped my readings. Vascepa was the next Medicine to try by my Heart Dr.  This is like taking 34 omega 3 fish oil pills, but put into each 1 Gram Pill. 4 Grams daily. No fishy taste or burps.

But is supposed to help tryglicerides.

My Cholesterol is normal.

Berberine hcl, and Taurine, red yeast rice, CoQ10, along with other natural substances are supposed to help. I would check with your Dr before trying anything I have listed, as I am not a Dr.

H63D & S65C ~ The Forgotten HFE (Haemochromatosis) Mutations

Private group on Facebook is a great source of information.

1 in 100

Medications used in the management of hypertriglyceridemia include the following:

Fibric acid derivatives (eg, gemfibrozil, fenofibrate)

Niacin (slow-release, immediate-release, extended-release formulations)

Omega-3 fatty acids (eg, icosapent, omega-3-acid ethyl esters)

HMG-CoA reductase inhibitors (eg, atorvastatin, fluvastatin, pitavastatin, pravastatin, lovastatin, simvastatin, rosuvastatin)

The diagnosis is made on blood tests, often performed as part of screening. Once diagnosed, other blood tests are usually required to determine whether the raised triglyceride level is caused by other underlying disorders ("secondary hypertriglyceridemia") or whether no such underlying cause exists ("primary hypertriglyceridaemia"). There is a hereditary predisposition to both primary and secondary hypertriglyceridemia.[1]

Sending me notes or any info on tryglicerides will always be helpful. This is a gene handed down generations ago.

H63d/H63d means I will always be watched for iron. The tryglicerides connection is something newly found, and other members have chimed in stating the same.

Thanks for reading 

Joey

Fatigue and Multiple Sclerosis

 

           Fatigue and multiple sclerosis

This can be chronic, as most MS people will tell you. Fatigue for the common person or from one person to another is different.  It is hard to explain, but like you have been hit head on by a semi truck.  Sometimes just moving from one place to another is difficult, as Energy needed. Not that you don't want to do a project, just no energy, or to fatigued to do it.

My partner bought me a simple watch, but in its app it shows your fatigue level. Not sure of the algorithm used, or the accuracy of smiley faces, coffee cups. 

Quite interesting, as sleep is a factor in fatigue. 

My heart rate, EKG, Blood pressure are better monitored with a cuff, as these numbers never are accurate enough with any monitor.  I use the monitor app mainly to track sleep and steps done daily.  The Fatigue monitor,  I will have to let you know with more use.

But for me, Fatigue is daily. I have used scales, like the pain scale to monitor daily fatigue. It can hit me instantly, or I can wake up already fatigued. 

MS fatigue. It can be crushing, numbing, and stop the hardiest person in their tracks. 

"If you have multiple sclerosis (MS), you might feel very fatigued from time to time. It’s different than normal tiredness, and it doesn’t get better with sleep.

The best way to ease fatigue is to treat what’s causing it. That’s hard to do when you have MS. But you don’t need to manage your symptoms alone. Your doctor can help you figure out what triggers your fatigue. They’ll suggest some lifestyle changes that may help. You might need to treat other issues like sleep problems or depression.

If that’s not enough to ease your fatigue, medication can be an option."

This is a quote from webmd.com

I am on Provigil, as it gives me a hour more awake time then the generic modafinil.

There are many medicines out there to help keep you awake.

My Neurologist kept me off the the ones which had many side effects, or were stimulation forming. Provigil does not work on everyone though, so thus talk to your specialists of side effects, or differences of different ones to try.   There is a list of them, with new ones coming for narcolepsy that is used also.  The prescription may need a heading like, for shift work from your prescribed to be prescribed. A weird insurance issue. A Sleep Study may be required.

Provigil (modafinil) is a medication that promotes wakefulness. It is thought to work by altering the natural chemicals (neurotransmitters) in the brain. Provigil is used to treat excessive sleepiness caused by sleep apnea, narcolepsy, or shift work sleep disorders.

Provigil or Modafinil is not an amphetamine

The US Food and Drug Administration hasn’t approved any medicines to treat fatigue in patients with MS. But doctors often use amantadine, modafinil, and methylphenidate to treat fatigue in such patients.

Healthline. Com states

"Certain complications of MS can also induce fatigue. This may be referred to as a secondary cause. Complications of MS that may also cause fatigue symptoms include:

• chronic pain
• emotional disorders, such as anxiety and depression
• anemia
• reduced physical fitness
• being overweight or obese
• reduced thyroid function
• sleeping issues, such as insomnia, sleep apnea, or restless leg syndrome
• diabetes
• infections

Fatigue can also be a side effect of certain medications, such as those used to treat spasticity, pain, and bladder dysfunction."

So you can see Fatigue is shown in many different aspects. 

Chronic fatigue usually becomes worse as the day wears on.   It can last for weeks, or never seem to go away.

There is a Delayed Fatigue, when major fatigue follows you for weeks, after doing a over exherting  item.  This could be a simple walk of going to far, or a exercise, mental or physical that overtires  nerves that are being misfired by Multiple Sclerosis. One of which you are left with no Energy. 

It can be acute (lasting a month or less) or chronic (lasting from 1 to 6 months or longer). Fatigue can prevent you from functioning normally and affects your quality of life. According to the National Multiple Sclerosis Society, 80% of people with MS have fatigue.

So lots of information to search for on the web, sometimes different searches will gather you more information to ask your Dr what to try. 

I still end up tired, needing a nap in the afternoon, but can tell considerable how Provigil works with me.

Questions or comments, let me know. New Year comming up, As Insurance Companies like to play Doctor.

Thanks for reading

JoeY

Multiple Sclerosis and IBC

One of the news digest has my story

Multiple Sclerosis has many aspects.  Some items people do not want to talk about, such as constipation or Diarrhea.  My partner found a helpful solution, not to solve the ongoing problem, but one to help in the bathroom.

  Most Guys would never think of using a bidet, and think they are only made for women, and a special toilet bidet needed installed. This is not the case, and this gadget I have found to be one of the best.  It can be made for a man or woman. It can be heated, or unheated. Many versions.

This one hooks right up to your existing toilet.

Bathroom Luxury Meets Eco-Friendly

I was skeptical, but had mentioned one for my birthday to my Partner. A type of unexpected present for our home we call the Treehouse. This Winter I may be going WOW with cooler water!

A easy installation, and wonder why they are not being used everywhere.

It saves toilet paper, as all you are doing is patting  yourself dry.  We will have hand towels  next to the bathtub shortly for  just this purpose.

 since we live are remote, and on a well, and septic, this will help our system tremendously.

https://luxebidet.com/ref/JoeY/

I am always looking for answeres or help. 

Pathways to bowel or bladder dysfunction are common with Multiple Sclerosis. I read many blogs about this on  https://irritablebowelsyndrome.net the newest

https://irritablebowelsyndrome.net/living/wasted-time/

https://multiplesclerosis.net/living-with-ms/digestive-problems-diarrhea-embarrassing

https://multiplesclerosis.net/living-with-ms/digestive-problems-diarrhea-embarrassing

Yet another great link!

I did find Most Multiple Sclerosis people are low in Bile Production.

Thus the alternating constipation or Diarrhea

I found this government paper on 

Butyric acid in irritable bowel syndrome

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4027835/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4027835/

"a group of short-chain fatty acids and is thought to play several beneficial roles in the gastrointestinal tract."

These symptoms people have cross over from Multiple Sclerosis to daily people. One report said one in six people live with IBS.  Sometimes caused by food we eat, or diets we try.

I am being a scientist with the help of a great GI Dr, his MD assistant, and a Wonderful Endocrinologist.

 I run a list of what I have found doing research on products. This is not something I would recommend anybody doing, without talking to their specialists.

Since being diagnosed with IBC-C, bowel problems run in the family from diverculitis, to bowel issues, and generation before me having some type of bowel issues.

My GI has me on Linzess, A powerful medication. That I use with lactulose 50-90 mil to provide relief. Simethicone is used for the Bloat. 

Ox Bile was tried, colon lining nutrition of calcium butyrate, magnesium butyrate, and butric acid.  Digestive support Pancreatin of Amylase, for carbohydrate digesting, protease, for protein digesting, and lipase, for fat digesting enzymes.  

Sodium Butyrate Bodybio.com had butric acid, which is a medium chain triglyceride MCT. It provided microbiome support, improved digestion, healthy metabolism.

Also on my regimine is Ceylon Cinnamon.Horbaach.com  It is known as the true cinnamon. Used for supporting healthy weight,  heart, circulatory, and joint health. Blood Sugars it also helps maintain.

My Heart Dr put me on Vascepa, Vascepa.com  for high Tryglicerides.  Berberine is also taken.

I take vitamin D.  People with MS are low in vitamin D, but have your blood work checked by a Endocrinologist before starting, and monitored.

I have a new list I went over with my specialist, some amino acids, some mushrooms, some minerals to help digestion, and restoration sleep. The Dangers of some supplements that contain Griffionia Simplicofola seeds known as Hydroxtryptophan or "5HTP", as serotonin overload syndrome can occur due to other MS medicine I am on.

A warning that all supplements are not the same, or some may be low quality, or not even have what is listed in it.  Wal-Mart, Walgreens, GNC all got in trouble years ago.

I try one at a time, make notes for few weeks. May try a combo that works better. Research the manufacture. I will have to make a second blog, on the next set of supplements, and which ones worked for me.

Let me know of ones I may be missing, or companies can send me a sample by emailing me for address

One of my stories was just published in irritablebowelsyndrom

https://irritablebowelsyndrome.net/stories/ibs-ms/

https://irritablebowelsyndrome.net/stories/ibs-ms/

Thanks for reading, stay safe.

JoeY

H63D/H63D genes and MS

 

https://youtu.be/rnKbImRPhTE?list=RDrnKbImRPhTE

For those who want the background music.

Multiple Sclerosis and having  H63D H63D  genes

Yes, A autoimmune story that requires a lot of research.

I find that I fall into the less than 5% that have the two copies of the H63D genes that cause Iron overload.  It began a few years back, when my endocrinologist was not obtaining lab results that she wanted.   I have been on Testosterone Therapy since the beginning of my multiple sclerosis

Most people with MS  have a deficiency of vitamin D, and also, Testosterone, and yet another one I found... Low Bile  Acids, which I will have to talk about later.

My Vitamin D was in ricketts stage when it was checked. I now stay in the #80's range, to be high for neurologist, but low enough not to get calcium in blood.

My pituitary Gland had a  MRI done. This meant I had to get off the real Biotin trial I was on for eight months, and give up Testosterone for six months. The Testosterone is hard to quit cold turkey.

But this still showed abnormal blood results, thus I was referred to the Cancer Clinic. The first Was, its caused by testosterone. I told him no, and he agreed for more testing. The first DNA, came back normal. 

 A Good GO, was my primary, and he mentioned the H633D Dna test. Right track, as that is what my cancer Dr ordered. The test came back with two mutated copies of the H63D gene, causing me have Haemochromatosis

17 phlebotomies, or for my UK readers, veins punctures to drain blood from me

It came out as thick as pancake batter.

Nord was joined. 

https://rarediseases.org/

I joined Rare Patients Voice

https://rarepatientvoice.com/

 in USA,  I had only found eight others with who had iron overload caused by the gene Mutation. They provide paid surveys for researchers, and anybody to join

I went back on my mothers side to a fourth grandparent and down that line, when a fith cousin responded. He was 74 years old, but Dr had him on blood thinners. His 23andme data showed the H63D gene. His Dr confirmed Haemochromatosis, and with the  double H63D gene. 

Now I know the one side of family link being passed on by generations. Do not know the other side, though. A Multiple Sclerosis Mystery also. Sanyogenetics.com Sanogenetics.com has my DNA, which has many MS genes it points to in a earlier blog.

H63D & S65C ~ The Forgotten HFE (Haemochromatosis) Mutations

Private group on Facebook was found earlier this year. 

https://m.facebook.com/groups/2309415149302702/

This led to a lot more research.

Checkiron.com

Youtube up to date info on CHECK IRON

Using this research tool, it allowed me to find another gene, The pro589Ser.

"Risk Score for HH Type 1 is 7.9

Coverage 42.46% for 23andMe

You are homozygous H63D which causes iron overload in 5.4% of cases but this is strongly increased by the Pro570Ser mutation.

H63D Two copies of H63D, 5.4% chance of iron overloadHFErs1049296(CT)3Pro570Ser - risk allele: T (Pro589Ser) This is called TF C2. It creates an increased likelihood of iron loading when combined with any c282y and h63d because it forces a reduced TIBC resulting in higher levels of free iron and free radicals. This also Increases susceptibility to Alzheimer's disease but only when combined with c282y."

My info, so I do not loose

http://checkiron.com/ci/resultsMV2.jsp?id=aeb2f92e034f413fa35f9e60d19ab533#home

http://checkiron.com/ci/resultsMV2.jsp?id=aeb2f92e034f413fa35f9e60d19ab533#home

Made for interesting research, as other genes were looked at. Wonder if they could add auto immune diseases, like find...  but Sanogenetics is covering this.

A find that my Endocrinologist thanked me for.

I Still have MS, with its daily tolls, and unknowns.  Botox was increased from 300 units to 500 units, trying to keep my spastic muscles that are overly stimulated by my MS. Many muscles In the calf and into the neck region. All guided by computer rhythm, but more by the professor neurologist that knows the name of each muscle, and what they control. I can feel when he hits the deep muscle that is hard as a rock.  This keeps me mobile with a cane.

https://rarepatientvoice.com/EverchangingMS/

Than you for reading. Hope some of these links will be helpful

JoeY

IBS and Multiple Sclerosis

IBS and MS

Yes, it hits kinda unexpectedly. First it was being plugged up. Bowles creating hard lumps that would not pass.  Generlac was prescribed eight years ago. A nother Dr, playing Dr did not know anything, and increased the Generlac to the point of having accidents at any given moment.

A test for Swallowing was done, by eating radio active food, and the Drs and entire staff watching how it slowly, and I mean slowly went from mouth to stomach.

Esophageal mobility disorder was given. Metoclopromide to help the muscles move food thru was also prescribed.  Apparently A drug used in many MS patients.

Then came

A upper and lower GI was performed. The Dr made it to believe I had Ulcerative colitis, when coming to. Yes, have them knock you out for this procedure.

Getting test results a few years later, besides the one they gave me was like pulling teeth. I received the Anesthesia report, which showed some problems they had.  I was to take VSL#3.

But since I started Bloating, a condition Kim Dolce describes quite well in her blog, 

https://multiplesclerosis.net/living-with-ms/irritable-bowel-syndrome/

I have gone thru all the test she has,  looking for small intestine overgrowth of bacteria,  a breath test to see how much methane I was producing. Could not pass a dui test haha..

  This is a part of your insides that starts inflating like a balloon. Yes, eight inches in diameter I would blow up. Think of Willy Wonka , Charlie and the chocolate factory. Their was this naughty girl, who insisted on chewing gum. And when it got to the blueberry flavor, she blew up like one.

 The difference is its only in the stomach, waist that swells up. If I could  prick the skin stretched so much with a pin, I would.

A different GI, I went to and a Smart GO, showed me why I did not have UC, but IBS.

That was a good thing, but what is the plan of action to take?

A article,

CAN HYDROCHLORIC ACID IMPROVE YOUR DIGESTIVE HEALTH? – ADVICE FROM DR. ROBERT MARSHALL, PHD

https://qnlabs.com/blog/can-hydrochloric-acid-improve-digestion-radio-show.html

This I have not tried yet. I see the GI every three months, so will ask.

I did a viome test to see foods on food map, to see my super foods, ones to avoid, and ones that were good. This perhaps pointed me in right direction of foods, but recommendations of other items my GI Dr questioned.  He sent me to a nutritionist to verify.

Things I have learned:

People with MS are low in Bile production.

Multiple sclerosis (MS) patients have lower than usual levels of molecules called bile acids circulating in their blood, a study found. These molecules, produced in the liver to aid fat absorption in the gut, also appear to block inflammation and nerve cell damage in the brain.Mar 31, 2020

https://multiplesclerosisnewstoday.com/news-posts/2020/03/31/bile-acid-supplements-may-ease-inflammation-symptoms-progressive-

little bit of research led me to an article published in the Oman Medical Journal. The study suggests patients with irritable bowel syndrome have a high rate of vitamin D deficiency.1 Another study published in the International Journal of Medicine found that patients with IBS who have low vitamin D serum levels showed an improvement in symptoms when treated with vitamin D therapy.2

I am on high dose of vitamin D,  being monitored by a endocrinologist, so knew this was not a problem with me, but others, may have a deficiency. Be monitored if taking high doses, as calcium build up could happen.

But this led me to add ox bile, and bile acids, along with a host of other supplements one at a time to see how my body reacted.

Some of what I have tried

Lactobacillus rhamnosus GG 5 billion cell

L-GLUTAMINE 500 mg Capsule

SODIUM BUTYRATE

PancreatinPANCREATIN-LIPASE-PROTEASE-AMY PO

Cinnamon 

BERBERINE-HERBAL

Magnesium

N-ACETYL-ALPHA-D-GLUCOSAMINE

Alpha lipoic acid

LACTOBACILLUS REUTERI PO

Vsl#3

Diets, did many.

Find most MS patients get a wrong signal telling muscles in intestines how to move. Metoclopromide  put on years ago for delayed emptying (slow moving from mouth down).

Esophageal mobility disorder.

Then tried many type of probiotic, even VSL#3, and then to pre biotics. List goes on. 

Apparently MS people are low in Bile acids also. So now on ox bile, and bile acids that break down fats, and carbs with a handful of other pills.

Chia seeds, flax meal, figs, psyllium husks, seeds, potato starch, benefiber, quinolla,  all tried

A tiny pill that has simethicone (Wal-Mart brand) has relief helps the bloating.

Still alternate, but linzess has been best, keeping me going (either liquid, soft, controlled by how much lactulose used)

 Always looking to find out what others use. 

 too much pressure from not the bloat, but from constipation can really cause damage.  The Bloat, quite uncomfortable. Puts 8 inches more On me.

Would love others experience, or what works.

Thank you for reading

JoeY

Pain Sensitivity...

Fight…. or flight!.  I know what my Pain Sensitivity is over the last eight years.

It was first tried to be controlled by Tramadol. A medicine I found to be allergic to the first week. Then came

Indomethacin.

One that burned holes in my stomach, so  prilosac, for the stomach, the It was opioids, and  morphine. Enough that the pharmacists thought I was giving it to someone on their death bed.

I was able to get off all these, except prilosac when a proper diagnosis came. Two meds work to block Pain in Multiple Sclerosis. Are Lyrica and Cymbalta combination. They need to start with name brands, as generics don't work. Gabbapentin is another good one. I am on over twenty five medicines, to control Pain and my multiple Sclerosis.  

A interesting report of DNA was done by Sanogenetics.com.  It shows some DNA they know is  related to Pain. Enclosed is their report, I find interesting.  Everyone has different Pain thresholds. I am sure DNA will shed light on many others.

https://palousemindfulness.com/MBSR/week0.html

Thanks for reading, and leave me a comment!

Joe

Pain Sensitivity

How does genetics influence the way we experience pain?

Pain Sensitivity

Complexity Level:Complex

low

Heritability- low -10%

Genetic variation in these sites has been associated with different levels of susceptibility to & risk of chronic pain.

HIGHER PAIN THRESHOLD

LOWER PAIN THRESHOLD

rs4680

AG

- This means that you are likely to have an intermediate pain threshold.

HIGHER RISK

LOWER RISK

rs1042713

GG

- This means you have a normal risk of experiencing chronic pain

Thermal pain

HIGHER THRESHOLD

LOWER THRESHOLD

rs25531

TT

- This means that you are likely to have a higher threshold for acute thermal pain.

A pulled muscle in the back or leg can send some of us to the couch for days whereas others seem to more easily recover. How can we explain differences in pain sensitivity and recovery? Could the answer be in our genes? Scientists have been studying the question for a long time and the answer is: “it’s complicated”. Susceptibility to pain appears to be dictated by interactions between your environment and your genetics.

Fight…. or flight!

Many of the genes found to be associated with pain sensitivity contribute to the production of adrenaline and serotonin .

Both adrenaline and serotonin are 'neurotransmitters', which act as messengers in the brain to carry information. Adrenaline is often known as one of the “stress hormones” and is responsible for the famous “fight or flight response”. Increased levels of adrenaline raise the heart rate, elevate blood pressure and boost energy supplies. In other words, adrenaline prepares the brain to react to immediate danger. In patients with chronic pain, some genetic variants have been found on a gene called COMT, which is known to be involved in the regulation of adrenaline. Genetic variation in the site called rs4680 has been associated with different levels of susceptibility to chronic pain. People with two G's in this position are much more tolerant to chronic pain!

SNP rs4680

You have the variant AG at position rs4680. This means that you are likely to have an intermediate pain threshold.

Genetic variation in another gene called ADRB2 also influences adrenaline levels and has also been suggested to play a role in pain sensation. One genetic variant near ADRB2 has been associated with chronic pain: rs1042713. Curiously, the adrenaline related genes mentioned in this article may also be associated with sleep dysfunction and anxiety.

SNP rs1042713

You have the variant GG at position rs1042713. This means you have a normal risk of experiencing chronic pain.

Pleasure or pain?

The second neurotransmitter system that seems affected in patients with chronic pain is the serotonin pathway. Serotonin is often prescribed as an anti-depressant and is popularly thought to contribute to feelings of well-being and happiness. This description does not do serotonin justice, as it does far more in our body than regulate emotions and works in complex and intricate ways. In the context of pain for example, serotonin can act as an analgesic (painkiller) or as hyperalgesic (pain enhancer), depending on where it acts in the body. Several genes controlling serotonin production are involved in susceptibility to pain. The HTR2A gene codes for a protein that acts as a 'landing pad' or receptor for serotonin. The serotonin transporter gene SLC6A4 is also involved in pain perception. If you have two C's at rs25531, you are more likely, on average, to be more sensitive to thermal pain (such burns or frost bites).

SNP rs25531

You have the variant TT at position rs25531. This means that you have a higher threshold for acute thermal pain.

This genetic variant was not included in your original DNA data file. During our upgrade process, we determined your most likely genotype at this position using imputation.

More about imputation

What does this tell us?

This is only a snapshot of the many genes that are involved in pain sensitivity. It is important not to forget that the perception of pain can also be influenced by psychological factors. A recent study suggested that swearing out loud while immersing your hand in cold water can help relieving the pain . Overall, more research is needed to truly understand the biological nature of pain. As our understanding improves, there may be opportunities to develop more personalised treatments to acute and chronic pain.

Image credit: - Unsplash

References

[1]The phenotypic and genetic signatures of common musculoskeletal pain conditions.

[2]The science of why swearing reduces pain.

Glossary

[SNP]

SNP stands for 'single nucleotide polymorphism' and refers to regions of DNA that vary between individuals.