A Long Island scientist has found a new way to detect multiple sclerosis, a discovery that may lead to an innovative diagnostic capable of accurately revealing signs of the neurodegenerative disease sooner than current technology, results of a new investigation show.
Multiple sclerosis is a chronic, inflammatory, autoimmune disorder marked by turncoat components of the immune system that wage war on the central nervous system. The condition is the most common cause of neurological disability in young adults and is marked by fatigue, weakness, double vision and impaired coordination, according to the National Multiple Sclerosis Society.
At Winthrop-University Hospital in Mineola, Eitan M. Akirav, a researcher who specializes in the biology of autoimmune disorders, has discovered a biomarker — a signpost of the disease — that until now had been unknown. Akirav and his team found telltale DNA in the blood, a sign of damaged cells in the brain.
The scientists are working on the biomarker to exploit its potential both as a highly accurate diagnostic target and as a biological bull’s-eye that doctors can home in on to determine a patient’s overall prognosis. In addition, there is a possibility of using the biomarker to determine how well certain drugs are working, Akirav said.
“We have tremendous hope that this will improve the quality of care that is available to patients with MS,” said Akirav, who also is an assistant professor of medicine at Stony Brook University’s medical school.
He and his team found DNA specific to these cells: the oligodendrocytes, key components in the brain that provide insulating support to the axons of nerve cells. Axons are vital because they are the electrical superhighway along which nerve impulses instantly fire. The axons are coated in fat — myelinated — as a form of insulation, just as electrical wires are protected with plastic or rubber.
But in MS patients, traitor elements from the immune system bombard the oligodendrocytes, disrupting their ability to insulate the axons. Multiple sclerosis has long been known as a disease of demyelination, a loss of axon-protecting fat. The disorder waxes and wanes between episodes of worsening disease and periods of remission. There is no cure.
“We measure the DNA in the blood as it is dumped from these dying cells,” Akirav said, noting that he and his team can identify this suspect DNA as having come directly from the brain and nowhere else in the body. That makes the discovery a surefire way to identify annihilation of axon insulation, he said.
Another possibility associated with the newly found biomarker is a quicker diagnosis of multiple sclerosis, Akirav said.
“We can see this by a blood sample, without an invasive procedure,” he added. “Studying the blood is a direct route to studying the brain.”
Current diagnostic criteria call for a complex series of tests. Doctors also must rule out other possible causes of neurological symptoms similar to MS, such as clinically isolated syndrome, a condition that has MS features but none of the long-lasting characteristics of the disease.
Guidelines from the International Panel on the Diagnosis of Multiple Sclerosis, for example, require an MRI of the brain; a spinal tap for the analysis of cerebrospinal fluid, which protects the spinal cord; and a visual test because of damage the disease can cause to the optic nerve. Evidence of damage in at least two separate areas of the central nervous system must be found before a definitive diagnosis is made, experts say.
Akirav’s discovery, reported this month in the journal EBioMedicine, comes on the heels of several spotlighted efforts to diagnose — and treat — multiple sclerosis.
In April, scientists at NYU’s Tisch MS Research Center in Manhattan reported results from a stem cell trial in which damaged nerve axons were remyelinated in patients. One patient no longer needed a cane, lead investigator Dr. Saud Sadiq said.
Stem cells are blank slates capable of transforming into virtually any kind of cell under proper conditions. Patients in the early clinical trial have had positive results without side effects, Sadiq said.
The New York Academy of Sciences, meanwhile, sponsored a meeting June 28 in Manhattan where doctors and scientists zeroed in on “laboratory bench to bedside care” in multiple sclerosis, which affects about 400,000 people in the United States, mostly women.
Experts examined concerns similar to Akirav’s research: diagnostics, prognostics and predictive biomarkers. They concluded that research into all of these areas is vital if further advances are to be made against the disease.
Dr. Giancarlo Comi, director of neurology at Vita-Salute San Raffaele University in Milan, Italy, told those at the meeting that of utmost concern is the need to grasp an even stronger understanding of the “relapsing” phase of the disease, the stage marked by destruction of the nerves’ axons.