Find Your Gene Variants For Multiple Sclerosis Using Your DNA Raw Data

What is Multiple Sclerosis?

A long-term disease which attacks your Central Nervous System (CNS), affecting your brain, spinal cord, and optic nerves.

The potentially debilitating disease could cause permanent damage to the nervous system.

The symptoms of Multiple Sclerosis (MS) vary depending on the amount of nerve damage, and on the types of nerves affected.

While some individuals might lose their ability to walk, others might experience long periods of remission without any new symptoms.

Main symptoms of the disease include:

Numbness or weakness in one or more limbs, typically occurring on either side of your body at a time, or the legs and trunk
Tremor, Lack of coordination, Unsteady gait
Electric-shock sensations occurring with certain neck movements, especially behind your neck forward.

Although there is no cure for MS, treatments can help speedy recovery from attacks. It could also help to modify the course of the disease and manage symptoms.

What are the very first signs of MS?

The following are some common early signs of MS:

Vision problems
Pains & Spams
tingling & numbness
bladder issues
cognitive issues
balance impairment
Dizziness
sexual dysfunction

What are the symptoms of MS in a woman?

As per the American National Multiple Sclerosis Society, this disease affects women three times more than men.

While most of the symptoms of MS are common in the patients of both genders, some of them are especially seen in women.

These include:

Problems related to menstruation and menopause
Pregnancy-related issues
Weakness, imbalance, depression, and fatigue during menstruation.
Reduced vaginal lubrication or pain during sexual intercourse

The average age of onset of MS symptoms

Although MS usually affects individuals who are between 20-50 years of age, children and teens could also get affected.

About 2-5% of individuals affected with the disease develop symptoms before 18 years of age.

How to lead a normal life with multiple sclerosis?

In most cases, MS patients can lead a normal life, but it is difficult to predict whether or not their condition will improve or deteriorate.

This is because the disease varies from one person to another.

However, MS isn't a fatal condition.

A recent study of about 2,300 patients with multiple sclerosis reported that SNPs from HLA regions, most notably rs4959039, shows an increased risk for multiple sclerosis regardless of HLA-DRB1*1501 status. (1)

How serious is multiple sclerosis?

Although Multiple sclerosis isn't generally the cause of death, it can be a severely disabling condition.

Their life expectancies get reduced due to complications from the disease or other related medical issues.

Even though there isn't a cure for MS yet, there are several new medications to treat it, reduce the number and severity of relapses and can also delay the long-term progression and complications of the condition.

Per the National Multiple Sclerosis Society, 2.3 million people across the world are affected by MS, the main population being the people in the age group of 20-50 years.

Although there are no laboratory tests to detect the condition, genetic testing can discover gene variants associated with the risk of the condition.

This could pave the way towards finding new ways to diagnose and treat the condition.

Multiple sclerosis and Stress

MS is a chronic autoimmune disease that affects your CNS.

Although the primary cause remains uncertain, it appears that its etiology is multifactorial including both genetic and environmental factors.

For example, exposure to stress has been suspected as a factor that could aggravate MS.

Based on a study (T. Riise et al.), there was no major role in stress for developing multiple sclerosis.

But stress could be a potential risk for multiple sclerosis.

Can MS be detected through a blood test?

Though MS could be hard to identify during the early stages, there is a blood test that promises a faster diagnosis and may also help to predict the efficiency of treatment.

This blood test is based on the theory that MS is an autoimmune disease.

They collect the immune cells of the patient, check if those cells get ready for an attack while exposed to neural antigens.

If that happens, there are good chances that the person has MS.

While there are no blood tests that specifically detects MS, there are ones that can help rule out other diseases or health conditions like Systemic Lupus erythematosus, Sjogren's, vitamin deficiencies and certain rare hereditary diseases.

Apparently, there is a genetic test that discovers genetic variants associated with predispositions of MS at a very early stage.

Such early detection of DNA risk variants might help the patients get more aware of the symptoms and find ways to treat the condition.

Studies have shown that the two genes DDX39B and IL7R are associated with increased risk of multiple sclerosis.

They emphasize that their findings may also open the door to tests that can screen individuals with a family history of MS.

This early detection of DNA risk variants may help people to be more aware of MS symptoms.

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Do I have MS or fibromyalgia?

Both MS and fibromyalgia might have symptoms such as headaches, joint pain, muscle aches, numbness, tingling sensation in the extremities, fatigue, memory problems.

Also, both these conditions are more common in women than in men.

However, in MS, MRI shows brain lesions, but in fibromyalgia, it doesn't show up.

Can MS change your personality?

In addition to all the physical disabilities and difficulties associated with the disease, MS also has profound emotional consequences.

Lack of enough knowledge about the disease could add anxiety to the sufferer, especially when they are newly diagnosed.

Apart from such emotional stress, demyelination and damages to the brain's nerve fibers can cause emotional changes.

However, medications like corticosteroids can significantly help control such emotions.

What behavioral changes do people with MS go through?

Apart from physical disabilities, MS patients also struggle with behavioral changes such as:

Depression
Euphoria (Appearing unrealistically happy and/or undisturbed by anything distressing)
Hidden depression
Emotional lability
Blunted emotions
Lack of insights (unaware of their symptoms or their consequences)
Disinhibited behavior (lack of judgment, empathy, failure to perceive others’ emotions)
Apathy (lack of initiative)

The final stages of multiple sclerosis

End-stage MS can progress to severity at which the patients typically lose their physical independence.

It can cause mobility loss and other life-altering symptoms, and such patients might require dedicated care such as access to palliative care services, to meet their needs.

In such cases, life expectancy also gets reduced up to 5-10 years.

The advanced symptoms include pain (in muscles, nerves & joints), tremors, sensory changes, spasms, stiffness and cramps in the muscles, bowel or bladder incontinence, UTIs, constipation, mobility limitations, chewing & swallowing difficulties, speech difficulties, emotional disturbances, and pressure sores.

End-stage MS might also trigger life-altering changes and worsen the quality of life which can lead to social isolation.

Diet recommendations for multiple sclerosis?

Although there's no fail-safe plan for eating right with MS, it is really important to follow a healthy diet. Including two liters of water and 30 grams of fiber daily along with other nutritional items, low fats, and refined sugar is what experts recommend.

Some specialists who suggest a more aggressive eating plan advice Swank diet (developed by Dr.Roy Swank)- one that is stringently low in fat, ban all dairy products, gluten, legumes, saturated fat from animal sources, and stresses on fish and fish oils.

While such plans get controversial, there is every good reason to eat a healthy diet and avoid things that are known to be bad for everyone.

A sample diet plan

Saturated fat to be cut down. Avoiding red meat, butter, cheese, and full-fat dairy items.
Using vegetable and fish oils.
Eating fish regularly (salmon, herring, tuna, mackerel, and lake trout)
Eating skinless chicken or turkey, lean meats
Consuming 5 servings of fruits & vegetables daily
Eating at least 4 servings of whole-grain products every day
Being cautious about caffeine & alcohol

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Foods to avoid

While consuming a nutritious diet is important, avoiding certain foods is equally important for MS patients.

Although avoiding these is usually recommended, MS patients should consult their doctors to check if they should remove the following from their diets:

Saturated fat
Trans Fats
Cow's milk
Sugar
Sodium
Gluten
Refined Carbs

What is MS hug?

MS Hug- It is a symptom of MS wherein the patients feel like a tight band has been tied around the chest or torso which results in a very painful experience.

The MS hug feels different from a person to another.

For some MS hug can manifest as a burning or tingling sensation, and for others, it may manifest as sharp pains.

How long does MS hug last?

It can be long or short lasting or in some cases, even be persistent all the time.

The duration of the hug and the level of pain and discomfort caused will affect how one chooses to manage their symptoms.

What triggers MS hug?

Heat, stress and fatigue and other such situations where your body might not be running at a 100% efficiency can trigger an MS Hug.

It is important for MS patients to discuss with their doctors about any triggers that they have noticed.

What happens when multiple sclerosis is left untreated?

When MS patients stop taking their medications, they might experience a relapse of their symptoms.

Even patients with long periods of disease stability can relapse if they stop taking their medications.

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Is MS curable?

Currently, there is no cure for MS, but it is hoped that cutting-end technologies would find a cure soon.

Fortunately, there are several FDA approved drugs that can modify the course of the disease by limiting new areas of damage in the central nervous system, by reducing the relapses, and postponing the progression of disability.

There are also many technological advances and therapies that MS patients can use to manage their symptoms more effectively.

Is MS contagious?

There's no evidence that MS can be transmitted from one person to another.

Thus, the disease is not considered contagious and cannot be caught from a person with it by coming into contact.

While many researchers opine that it is not hereditary either, individuals with an affected first-degree relative might be at risk for developing the disease.

New research suggests that individuals who have inherited a genetic mutation on gene NR1H3 might be more prone to it.

Is MS genetic?

Though MS isn't an inherited disease, there are genetic risks that may be inherited.

The risk of developing the disease is 1 in 750-1000.

If one among a pair of inherited twins is affected with MS, 1/4 cases, the other twin also develop the disease.

Among first-degree relatives of MS patients, the risk if high, but not as high as that of identical twins.

Around 200 genes have been identified to contribute to the overall risk of developing the disease.

A Study led by Malgorzata et al. provides evidence to support that MS can be hereditary. The study looked at 30 first-degree relatives of people with MS, and the results confirmed that relatives of people with MS have a higher risk of developing brain damage. And it is unknown if such brain changes might develop into the disease.

Does multiple sclerosis run in the family?

Research studies have proven that first degree relatives of MS patients might be at risk of developing the disease.

Among patients diagnosed with MS, some might have Familial MS- a condition when at least two other family members are diagnosed with the condition.

Does multiple sclerosis skip a generation?

Family members of MS patients might share some of the same genes, inferring that there is a higher risk of developing MS if it runs in the family.

However, it cannot be said with certainty that the particular combination of disease-causing gene variants gets passed between generations.

There are many MS patients who do not have any family history related to the condition.

What are the high-risk groups for multiple sclerosis?

Numerous factors can be responsible to increase the risk of developing MS.

Here is a list of who might be at risk of developing MS:

Individuals with immediate relatives (parents or siblings) with MS.
People who are infected by certain viruses like Human herpesvirus 6 (HHV-6) and Epstein-Barr virus (EBV)
Smokers are 1.5 times riskier than non-smokers to develop MS.
Obese people are also at a higher risk of developing MS.
Individuals who are subjected to environmental factors like certain regions and climates. For instance, people from Canada, New Zealand, northern Europe, and the northern United States are more likely to develop MS.
Individuals with certain autoimmune disorders like type 1 diabetes, systemic lupus erythematosus, psoriasis, and rheumatoid arthritis can be at a slightly higher risk
Older people, women and in terms of race- MS is more common in people of north European descent.

Mutations related to multiple sclerosis

Mutations in the HLA-DRB1 gene are the strongest genetic risk factors for developing MS.

Also, mutations in the IL7R gene (Human leukocyte antigen (HLA) complex especially HLA-DRB1*15:01 - the strongly linked genetic factor can cause MS.

Since HLA-DRB1 and IL-7R genes are both involved in the immune system, changes in either of them might be related to autoimmune responses that can damage your myelin sheaths and nerve cells and lead to MS.

MTHFR mutations

Methylenetetrahydrofolate reductase is an enzyme whose deficiency leads to impairments in folate metabolism and is thus implicated as risk factors for neural tube defects.

C677T and A1298C MTHFR mutations are said to be linked to neural tube defects.

MTHFR mutations also affect vitamin B12 and homocysteine metabolism.

MTHFR supplements recommendation for multiple sclerosis

When your MTHFR gene enzyme is defective, nutrients like folic acid, vitamin B12, etc.- whether acquired via food sources or from supplements, cannot be properly utilized.

Since you need the enzyme to make your body utilize these nutrients, defective enzyme makes it impossible.

Although there is no way to treat the defective gene, it can at least be prevented or partly managed by using active B vitamins.

These supplements skip over the MTHFR enzyme, allowing your body to be nourished regardless of the defective enzyme's function. Using such supplements can help manage MS.

What is the role of the VDR gene in multiple sclerosis?

The deficiency of Vitamin D is associated with an increased risk for MS, mutations in VDR (Vitamin D receptor) gene might contain genomic regulatory elements relevant to the pathogenesis of MS.

Also, when the genotype and haplotype frequencies for polymorphisms in this gene were analyzed, it was found that the VDR T-allele and the Bft haplotype could increase MS susceptibility and can also influence its clinical manifestations.

Vitamin supplement recommendations for multiple sclerosis

It has been reported that elevated plasma homocysteine and reduced folate and Vitamin B levels can result in MS.

Homocysteine (Hcy), folic acid (FA) and vitamin B (Vit B) have key components of One carbon metabolic pathway (OCMP) and the genetic factors of OCMP play a major role in the development of MS.

(OCMP is a part of cellular metabolism which is comprised of folate and methionine cycles and supports the critical function of the synthesis of thymidylate, purines, and methyltransferase reactions)

Note: Any recommendations that are mentioned should be carried out only after consultation with a qualified genetic counselor or medical practitioner.

How are multiple sclerosis, autism, and MTHFR gene mutation interlinked?

MS and other disorders like autism, ADHD, fibromyalgia, autoimmune disease, heart diseases, neural tube defects, and miscarriages have been linked to mutations in the MTHFR gene.

These mutations might lead to a condition called homocystinuria which is a disorder in which abnormal levels of homocysteine and methionine in the body might lead to cognitive issues, eye problems, abnormal clotting, and congenital heart abnormalities.

How are Parkinson’s disease and multiple sclerosis interlinked?

While movement disorders except for tremors such as parkinsonism are seen less frequently in MS cases, investigations have shown that MS contains inflammatory and autoimmune aspects of Parkinson's disease (PD).

Although there is no clarity if the relationship between MS and PD is casual or not.

There is a probability that MS plaques can affect the basal ganglia or such structure which play a vital role in the nigrostriatal pathway that leads to dysfunction of the extrapyramidal pathway to cause Parkinson's disease.

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