According to new research, newly identified blood biomarkers could help diagnose MS earlier.
- Multiple
sclerosis (MS) is a neurological disorder that affects almost three times
as many women as men.
- Currently,
an MS diagnosis relies on a range of tests carried out once symptoms are
evident.
- Now,
a study has found that people diagnosed with MS produce a distinctive set
of antibodies many years before symptoms develop
- These
antibodies can be detected in the blood, so could potentially lead to a
simpler, earlier blood test for MS.
A new study from the
University of California, San Francisco, has potentially found a method for
easier earlier diagnosis of multiple sclerosis (MS). The researchers detected a
distinctive set of antibodies in the blood of people who went on to develop MS
that are not found in people without the disease.
Caitlin
Astbury, research communications manager at the MS Society, in the United
Kingdom, welcomed the findings, who was not involved in the study,
telling Medical News Today:
“We’re excited to see
these results, which could one day lead to earlier diagnosis of MS for some
people. Living with MS can be debilitating, exhausting, and unpredictable.“
“Evidence tells us early
treatment is beneficial. In the future, if neurologists are able to diagnose MS
earlier people could start treatment sooner,” she added.
The study is published
in Nature Medicine.
What is MS?
Multiple sclerosis (MS) is a neurological disorder
that is estimated to affect around
2.8 million people around the world. It affects almost three times as many women as men. There are several
types, the most common being relapsing-remitting
MS, where episodes of new or increasing symptoms are followed by periods of
remission, during which symptoms go away partially or totally.
These symptoms, which usually start between the ages of 20 and 40
years, may include:
- Muscle
weakness and mobility problems.
- Numbness
and tingling in the face, body and limbs.
- Bladder
and bowel problems.
- Severe
fatigue.
- Muscle
spasms and tremor.
- Vision
problems.
- Emotional
changes.
MS is an autoimmune disorder, where the immune system attacks a
person’s own cells. In MS, immune cells attack the myelin
sheath that surrounds and protects nerve cells, thereby slowing down
the transmission of nerve impulses.
Diagnosis depends
on a number of tests, including MRI scans of the brain and
spinal cord, lumbar puncture to obtain cerebrospinal fluid for
testing, and evoked potential tests to measure speed and accuracy
of nervous system responses.
Signs of
nerve damage in blood serum
The researchers of this
study identified 250 people who had developed MS from more than 10 million
United States service personnel. They then retrieved serum results from the
Department of Defense Serum Repository for when they entered active duty, 5
years (on average) before their first clinical symptom and 1 year after their
first MS attack.
They matched these
participants for age, sex, race/ethnicity, and year of serum collection with
250 controls who did not have a diagnosis of MS.
The researchers
validated the serum results against serum and cerebrospinal fluid (CSF) results from an incident MS
cohort at the University of California, San Francisco (ORIGINS) that
enrolled patients at clinical onset. They used data from 103 patients from the
UCSF ORIGINS study.
They carried out
molecular profiling of autoantibodies and neuronal damage in samples from the
500 participants, measuring serum neurofilament light chain measurement (sNfL) to
detect damage to nerve cells.
In those who subsequently received an MS diagnosis,
levels of sNfL were higher than the control subjects many years before their
first flare-up of symptoms, indicating that damage to nerve cells begins a long
time before symptom onset.
Common
antibody pattern in people who developed MS
The researchers tested
the antibody patterns of both MS and control participants using whole-human
proteome seroreactivity (PhIP-Seq), which can detect autoimmune
reactions in the serum and CSF.
They found that many of those who went on to develop
MS had a distinct pattern of autoantibodies, which they termed an ‘immunogenic
cluster’ (IC) that remained stable over time — and this was similar to patterns
found in the ORIGINS cohort. This ‘autoantibody signature’ was not seen in
controls.
The researchers state
that their work: “validates and adds to prior evidence of neuro-axonal injury
occurring in patients during the MS preclinical phase.”
“It
is an interesting finding that a subset of MS patients have an antibody
signature to specific proteins and that the authors could validate the finding
in a separate population. Could this be a distinct entity as we have seen
for neuromyelitis optica, which was first considered a severe
MS variant and later found to be an own disease based on specific
autoantibodies? This will require further confirmation.”— Marianna
Cortese, MD, PhD, senior research scientist,
Department of Nutrition, Harvard T.H. Chan School of Public Health, Boston, who
was not involved in the study.
Potential
for earlier MS diagnosis
The authors of the study
suggest that the autoantibody signature they detected may have clinical
potential for early diagnosis of MS, stating that:
“Given its specificity for MS both before and after
diagnosis, an autoantibody serology test against the MSIC peptides could be
implemented in a surveillance setting for patients with high probability of
developing MS, or crucially at a first clinically isolated neurologic episode.”
Cortese added that the
autoantibody signature might have other uses:
“It would also be
interesting to see whether these antibodies could be a marker of disease
severity and explain some of the MS course heterogeneity.”
Although early diagnosis
could help many people avoid the more severe symptoms of MS, Astbury told MNT,
this is not the only priority for people with the condition.
“[T]his won’t help a lot
of people with progressive MS who have very limited, or no, treatment options.
We urgently need to find new treatments so that everyone living with MS can
benefit from early diagnosis,” she said.
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