Researchers develop Blood Test to detect underlying Neurodegeneration

06/10/2021

A recent study done by researchers at the King's College London, Lund University found that it may be possible to detect a range of neurodegenerative disorders based on one biomarker from a single blood sample. This would greatly simplify diagnosis and provide doctors with an easier roadmap to the best treatment available.

Neurodegenerative diseases are devastating and life-threatening, with no cure in sight. The hunt for circulating biomarkers through blood tests was going on already, hoping that these biomarkers will be able to provide better monitoring of neurological or neurodegenerative disorders. There is hope that new research could pave the way to better understandings of these conditions and more effective treatments. The following blog discusses the research into a potential blood test for neurodegeneration—also, an in-depth analysis of this study and its implications for future treatment options.

Neurodegenerative diseases

Neurodegenerative diseases result in continuous degeneration of nerve cells. The death of nerve cells can cause various problems and affect memory, thought, and attention. It's important for individuals afflicted by neuro-deficiencies to diagnose as early on as possible so they can take preventative measures against the onset of these debilitating diseases soon after.

Researchers have been working to develop a reliable set of biomarkers that can tell a person if the mechanisms in the brain responsible for degeneration have begun. This would be a huge leap forward because there is currently no way to diagnose neurodegenerative diseases like Alzheimer's. Without only looking at symptoms and waiting until they become severe before diagnosing someone with dementia or another form of neurodegenerative disease. Identification of reliable biomarkers can reliably detect and rule out the processes in the brain responsible for neurodegeneration.

The effectiveness of therapies for neurodegenerative diseases can be difficult to evaluate because each patient's progression is different. Spinal fluid tests and brain imaging can help identify those with neurodegenerative diseases before they show any symptoms. However, these tests are expensive and often only used for research purposes rather than routine care. Since millions of people suffer from neurodegenerative disorders, a simple and cost-effective method of early diagnosis is needed immediately.

Simple blood test

Blood tests already exist to diagnose people with cancer, so they can tell if there have been any changes to their tumor size or spread since treatment began. To diagnose brain diseases accurately has been one daunting challenge for physicians as well as patients. Most of them rely on expensive imaging scans, invasive spinal tap procedures, and subjective cognition tests that can take hours to complete and require people with many different backgrounds to ensure accuracy. Accurate diagnoses have always been difficult, but recent breakthroughs like blood tests to detect certain biomarkers could help doctors better. It also allows them to pinpoint where they need to focus their attention when determining treatment options for patients.

Researchers have found that abnormal protein (neurofilament light chain) levels identify people with certain degenerative conditions. Researchers can now predict whether they had these diseases better than previous tests could do using a person's age or blood test results. A blood test for neurodegenerative diseases that would allow early diagnosis and help monitor progression could be a huge breakthrough in the fight against these types of illnesses.

Biomarkers to identify neurodegenerative disorders

Currently, biomarkers test is performed using cerebrospinal fluid (CSF) after extraction through invasive lumbar puncture procedure. Advances have been made so that these same markers can now be found in the blood - providing easier access while also being less uncomfortable than taking them from CSF by way of spinal tap/lumbar puncture or LP.

One of the most worrying features of neurodegenerative disorders is damage to nerve fibers. These damages cause a release of neurofilament light chain (NfL), which can be detected with ultrasensitive tests. And elevated levels are found in many other diseases, unlike phosphorylated tau, specific for Alzheimer's Disease. NfL, a light chain of proteins released from damaged nerve fibers in many neurodegenerative disorders, can be detected at low levels and has increased with different conditions. Compared with phosphorylated tau, which specifically indicates Alzheimer's disease development, NfL may provide another diagnostic marker for other diseases as well.

Neurofilament light chain protein (NfL)

The protein NfL has an important role in the structural integrity of neurons and can be used as a predictor for disease progression. The levels of this protein are related to clinical symptoms, such that patients with higher concentrations display more severe presentation than those showing lower amounts. Therefore, a putative biomarker candidate for monitoring disease progression is the neurofilament light chain (NfL). These proteins play an integral part in neuronal cytoskeleton scaffolding by providing structure between axons and dendrites.

Also, by giving insight into how well the body metabolizes drugs or responds to certain treatments via its concentration level within cells. Following CNS axonal damage, the levels of NfL in the CSF increase. This could be an effective biomarker for injuries to nerve cells and their connections, leading to neurological disorders like Multiple Sclerosis or Alzheimer's Disease. It is present when damage has occurred but not during healthy conditions.

Moreover, NfL presents a central irreversible feature in multiple brain-related illnesses, including Parkinson's Disease and Multiple Sclerosis, among others. This means NfL can also help diagnose many different types of neurodegenerative diseases. Such as down-syndrome-related dementia, amyotrophic lateral sclerosis (ALS), or frontotemporal degeneration. This leads us to better prevention methods for this devastating illness.

A new study that supports blood test for early detection of neurodegenerative diseases

According to new research, a single biomarker can identify underlying neurodegenerative disorders. A study involving 3,000+ participants led by King's College London and Lund University found that by analyzing the levels of one substance from the blood sample taken during studies for those with memory or thinking problems (dementia). The research was published by Nature Communications to determine the cutoff levels of NfL. This value could indicate an onset of neurodegenerative disorders or Alzheimer's disease deterioration through a simple blood draw.

The blood levels of protein, called neurofilament light chain (NfL), can diagnose progressive neurological diseases. The measurement of NfLs has been found useful since some disorders such as ALS or dementia do not show any symptoms during the initial stages. But measuring the level of proteins like NfLs will help physicians detect them before progression occurs, prompting earlier treatment plans than if done after detection by other means.

Age-related thresholds or cutoffs of NfL

This study of the age-related NfL thresholds for diagnosing neurodegeneration was 100% accurate in detecting Down syndrome dementia. These cutoffs of NfL concentrations could represent an individual's point at which they would receive a diagnosis. According to King College London samples, these points were about 90% accurate in diagnosing neurodegeneration patients over 65 years old. Similar results were produced in the study conducted at Lund University.

NfL distinguishes neurodegenerative disorders from other disorders

There exist comorbidity between neurodegenerative disorders with a primary psychiatric disorder in disease development. Frontotemporal dementia is often misdiagnosed for depression because doctors don't have any good and quick way to diagnose them. Importantly, NfL distinguished individuals with depression from these people and prevented further harm or discomfort using their data analytics platform.

The study has also shown, even though NfL is a blood-based test, it can not tell the difference in all of the diseases, but it provides an insight into some of the conditions. For example, in patients with Parkinson's Disease, the high concentration of the NfL is showing atypical forms of the disease. It differentiated between those with dementia and those who do not have dementia, also in patients with down’s syndrome and the ones who don’t have it.

Summary

Neurodegenerative disorders can be difficult to diagnose because the symptoms may not appear until a year or more after onset. It's crucial for patients and caregivers alike to use every possible tool at our disposal, including blood tests, to detect these diseases early on to be easier to treat.

Biomarkers are biological molecules that indicate when there is onset or presence of a certain disorder. Scientists hope they will help with an earlier detection process by identifying these markers through research studies and clinical trials so many lives can be saved. The most important feature of a good biomarker is its preciseness. It should differentiate between healthy tissue and diseased cells and different diseases while being reliable during that person's life.

Researchers have been searching for a non-invasive diagnostic test to detect neurodegenerative disorders as early as possible. Molecular diagnosis has emerged over time to become one powerful technique that helps us diagnose various neurological diseases faster than before. Researchers are now looking at molecular diagnostic methods such as applying biomarkers, which can be helpful in this regard.

A team of researchers has developed a blood test that can detect neurodegenerative diseases like Alzheimer's and Parkinson's, which is a breakthrough in early diagnosis. The test measures the levels of a protein called neurofilament light chain (NfL). The hope is this will allow for earlier detection so people can seek treatment sooner.