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Although scientists don’t fully understand what causes multiple sclerosis (MS), they believe that genetic and environmental factors play a role in its development. Research shows that genetics may account for about 54 percent of the risk for developing MS, with the remaining risk likely tied to environmental factors.
MS is an autoimmune disease, meaning the immune system mistakenly targets the body’s own tissues. In MS, the immune system harms the protective myelin sheath around nerve cells in the central nervous system. This damage leads to lesions in the brain, spinal cord, and optic nerves, making it hard for nerve cells to work properly.
Although the specific causes of MS are still unknown, science has come a long way. With the development of genome-wide association studies (GWAS), scientists have been able to link certain genes to a higher risk of developing MS.
My Identical Sister Has MS Too
Dani Darling and Jacqui Blue, who are triplets along with another sister, have both been diagnosed with relapsing-remitting multiple sclerosis (RRMS).
00:00:00:00 - 00:00:27:15
Dani Darling
When I found out that my sister Jacqui had MS, I was devastated because I had just been diagnosed, so I knew what was happening, and I felt like having gone through it, that the last thing I wanted was for anyone to go through what I went through.
Jacqui Blue
We are two of three identical triplets.
Dani Darling
Yes, I’m the oldest by one minute.
Jacqui Blue
And I’m the middle, and the oldest of Nikki, our last sister,
00:00:27:15 - 00:00:55:04
Jacqui Blue
by 30 seconds.
Dani Darling
We started making music together
Jacqui Blue
in the womb. [laughing] No, I’m kidding. Like three.
Dani Darling
Before we could even do complete complex sentences, we were harmonizing.
Jacqui Blue
We were singing.
Dani Darling
As triplets, there were a lot of things that we didn’t want to share like, you know, when you’re a kid, you have to split your cake and blow your candles out together. So there’s things that you just don’’t want to share,
00:00:55:04 - 00:01:15:09
Dani Darling
and I think MS was one of those things.
Jacqui Blue
Dani was diagnosed in September, and then I was diagnosed that next February,
Dani Darling
about six or seven months later, but the thing that we found out was that we’d both had it for years.
Jacqui Blue
Yeah.
00:01:15:11 - 00:01:36:07
Dani Darling
What Nikki has is called RIS, and Jacqui has multiple sclerosis, and I’m not sure when or what her story would have been, or what her diagnosis would have been like if I hadn’t been the first one to find out that I had that. Before we both had it, you were like coaching me in resiliency, like, Jacqui’s a music therapist.
00:01:36:12 - 00:01:59:00
Dani Darling
She was like “You’re going to be OK.” That was actually the most important, I think, factor to me, being able to pick myself up and keep going was that, like, resilience training that you gave me.
Jacqui Blue
Yeah. That’s true. There are steps you can take, and it’s very important, and reaching out for help is one of them. Be honest with your feelings and talking things through.
00:01:59:00 - 00:02:22:22
Jacqui Blue
Stay active mentally and physically active. There are steps you can take to bounce back, and so we are — we’re doing them.
Dani Darling
I’m Dani Darling, and I have relapsing-remitting multiple sclerosis.
Jacqui Blue
I’m Jacqui Blue, and I have relapsing-remitting multiple sclerosis.
Multiple GWAS studies have identified more than 110 genes associated with the risk of MS. Some genes are more relevant than others and are associated with a higher risk factor for the condition.
HLA-DRB1*15:01, a version of the HLA-DRB1 gene, is one of the most strongly linked genes to MS. A person with the HLA-DRB1*15:01 gene is three times as likely to develop MS as someone without this version of the gene.
HLA-DRB1 is one of several human leukocyte antigens (HLAs). These genes help T cells, a type of white blood cell, recognize harmful proteins on the surface of invading cells, like bacteria or viruses. Once T cells detect these proteins, they either destroy the invaders or signal other immune cells to join the attack.
The HLA genes are diverse, and there are many different versions of each gene, called alleles. Scientists have yet to understand why the expression of the HLA-DRB1*15:01 allele is associated with a greater risk for MS. However, MS is an autoimmune disease, and HLA-DRB1*15:01 plays an important role in activating immune cells. It may be that this gene has something to do with the activation of immune cells against the CNS.
Other genes that increase the risk of MS are also related to how the immune system works. These include the IL7R-alpha and IL2R-alpha genes. “IL” stands for “interleukin,” a type of protein that helps immune cells communicate and control the body’s response to infections and diseases.
The L7R-alpha and IL2R-alpha genes help create receptors on cell surfaces. These receptors are proteins that allow cells to receive signals, like those from cytokines, which guide the immune system’s response to infections or injury. Scientists have identified small genetic changes, called single nucleotide polymorphisms (SNPs), in the IL7R-alpha and IL2R-alpha genes. These changes affect how the receptors work, and people with these SNPs have a 1.5 times higher chance of developing MS.
Although there are some genetic associations with MS, the disease itself is not technically hereditary. Unlike hereditary conditions that follow a specific pattern within families, MS doesn’t show this type of consistency.
However, MS still has some genetic components. Blood relatives may have a higher risk of developing MS when a family member has it. For example, a sibling or child of someone with MS may have up to a 4 percent chance of developing MS — a risk 10 to 20 times higher than that of the general population. The identical twin of someone with MS is at even higher risk, with a 30 percent chance of developing the disease. Because identical twins share all genetic material, the fact that a twin’s risk is not 100 percent affirms that factors other than genetics play a role in MS.
Learn more about who is likely to develop MS.
Research has found key genes, like HLA-DRB1*15:01, that raise the risk of MS, but the disease isn’t purely genetic. Factors like the immune system and environment also play a role. Ongoing studies on these genetic links may lead to better ways to diagnose and treat MS. If you have questions about MS, talk to your doctor. They can give you advice and guide you through the next steps.
On MyMSTeam, the social network for people with MS and their loved ones, more than 216,000 members come together to ask questions, give advice, and share their stories with others who understand life with MS.
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Anna C. Edens Hurst, M.D., M.S.
specializes in general pediatrics as well as medical genetics. Review provided by VeriMed Healthcare Network.
Learn more about her here.
Amanda Agazio, Ph.D.
completed her doctorate in immunology at the University of Colorado Anschutz Medical Campus. Her studies focused on the antibody response and autoimmunity.
Learn more about her here.
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My husband and his maternal aunt both have RRMS; my hubs also has Addisons. My maternal grandpa had Lupus, and I have Lupus w secondary Sjogrens. Consensus seems to be there is a genetic component..as… read more
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