Researchers globally produce hundreds of thousands of studies annually. It can be difficult to know if at some time in the future they will be the foundation for a disease cure or a technology such as CRISPR that revolutionizes medicine. But many are exciting for what they point to or how they spike the imagination. Heres a look at 10 of the more compelling research stories of the year.

Type 1 Diabetes Therapy Showed Promise in Early-Stage Trial

Vertex Pharmaceuticalsannouncedpositive early data from the first patient in its Phase I/II study of VX-880 in type 1 diabetes (T1D). The therapy is a stem cell-derived, fully differentiated pancreatic islet cell replacement therapy. T1D is an autoimmune disease, where the immune system attacks the islet cells in the pancreas, which is where insulin is produced. This leads to loss of insulin production and problems with blood sugar control.

In the study, the patient received a single infusion of VX-880 at half the target dose along with immunosuppressive therapy. The patient showed successful engraftment and demonstrated fast and robust improvements in several measurements, including increases in fasting and stimulated C-peptide, improvements in glycemic control, including HbA1c. It also resulted in less need for medical insulin. The therapy appeared well tolerated.

Some Alzheimers Plaques May Be Protective

Source: BioSpace

One of the hallmarks of Alzheimers disease is the buildup of beta-amyloid plaques in the brain. Yet many drugs that cleared amyloid dont seem to improve memory or cognition. Many researchers believe amyloid is only part of the issue, perhaps triggering inflammation that causes damage to the brain. New research out of theSalk Instituteadded a new twist, suggesting that some of the plaques may be protective. A type of immune cell in the brain, microglia, was long believed to inhibit the growth of plaques by eating them. Their research, however, demonstrated that microglia promote the formation of what are being dubbed dense-core plaques, which transports the wispy plaque away from neurons. They published their research in the journalNature Immunology.

We show that dense-core plaques dont form spontaneously, said Greg Lemke, a professor in Salks Molecular Neurobiology Laboratory. We believe theyre built by microglia as a defense mechanism, so they may be best left alone. There are various efforts to get the FDA to approve antibodies whose main clinical effect is reducing dense-core plaque formation, but we make the argument that breaking up the plaque may be doing more damage.

5 Genes Associated with Lewy Body Dementia, with Implications for Alzheimers and Parkinsons

Research conductedby theNIHs National Institute of Neurological Disorders and Stroke (NINDS)identified five genes that appear to play a critical role in whether a person will suffer from Lewy body dementia, a type of dementia where the brain accumulates clumps of abnormal protein deposits known as Lewy bodies. The data also supported Lewy body dementias connections to Parkinsons disease and connections to Alzheimers disease. The research was published in the journalNature Genetics.

Sonja Scholz, investigator at the NIHs NINDS and senior author of the study, said, Our results support the idea that this may be because Lewy body dementia is caused by a spectrum of problems that can be seen in both disorders. We hope that these results will act as a blueprint for understanding the disease and developing new treatments.

Why Obesity is Associated with Inflammation

Although obesity is linked with many inflammatory conditions, including cancer, diabetes, heart disease, and infection, why isnt it well understood? Researchers atUT Southwestern Medical Centeridentifieda type of cell that, at least in mice, is responsible for triggering inflammation in fat tissue. In obese individuals, white adipose tissue (WAT), stores excess calories in the form of triglycerides. In obesity, WAT is overworked, fat cells start to die, and immune cells are activated. The research team identified an adipose progenitor cell (APC), a precursor that later generates mature fat cells. These new cells are called fibro-inflammatory progenitors (FIPs) and they make signals that encourage inflammation.

Whats Behind Brain Fog in COVID-19 Patients

One of several unusual symptoms reported in COVID-19 patients is what is dubbed brain fog or COVID brain, but in medical terminology, is called encephalopathy. It appears to be loss of short-term memory, headaches and confusion. At its most severe, it is associated with psychosis and seizures. Researchers atMemorial Sloan Kettering Cancer Centerpublishedresearch in the journalCancer Cellthat explains the underlying cause of brain fog.

Jan Remsik, a research fellow in the lab, says, We found that these patients had persistent inflammation and high levels of cytokines in their cerebrospinal fluid, which explained the symptoms they were having.

New Compound Appears to Reverse Neuron Damage Caused by ALS

Researchers atNorthwestern Universityidentifieda compound that appears to reverse the ongoing degeneration of upper motor neurons associated with amyotrophic lateral sclerosis (ALS). ALS is a progressive neurodegenerative disease affecting nerve cells in the brain and spinal cord. As the motor neurons degenerate, they eventually die and the ability of the brain to initiate and control muscle movement is lost. With the disease, people may lose the ability to speak, eat, move and breathe. The compound, NU-9, was developed in the laboratory of Richard B. Silverman, the Patrick G. Ryan/Aon Professor of Chemistry at Northwestern. It can reduce protein misfolding in critical cell lines. The compound is also not toxic and can cross the blood-brain barrier. They published their research inClinical and Translational Medicine.

How Astrocytes Fix Damage in the Brain

Investigators withCharit Universittsmedizin Berlindescribed how a type of glial cell, called astrocytes, plays a role in protecting surrounding brain tissue after damage. They become part of a defense mechanism called reactive astrogliosis, which helps form scars, and contains inflammation and controls tissue damage. Astrocytes are also able to ensure the nerve cells survive that are located immediately next to the tissue injury, which preserves the function of neuronal networks. The mechanism was the protein drebrin, which controls astrogliosis. Astrocytes require drebrin to form scars and protect the surrounding tissue. Drebrin regulates the reorganization of the actin cytoskeleton, an internal scaffold that maintains astrocyte mechanical stability.

A New Spin on Jurassic Park?

In the books and filmsJurassic Park, researchers collected the blood from insects trapped in amber and cloned dinosaurs. A researcher from theUniversity of Minnesota is putting a more practical spin on amber research. Amber is the fossilized resin from a now-extinct species of pine, Sciadopityaceae. It was formed about 44 million years ago. In the Baltic regions, amber has been used for hundreds of years for traditional medicines for pain relief and its anti-inflammatory and anti-infective properties. Previous research has suggested that amber molecules might have an antibiotic effect. The team extracted even more chemicals from amber samples that appeared to show activity against gram-positive, antibiotic resistant bacteria.

They identified 20 compounds using GC-MS in the amber, most prominent being abietic acid, dehydroabietic acid and palustric acid, compounds with known biological activity. They also acquired a Japanese umbrella pine, the closest living species to theSciadopityaceae, and extracted resins and identified sclarene, a molecule present in the amber extracts that could potentially undergo chemical transformations to produce the bioactive molecules found in the Baltic amber samples.

The most important finding is that these compounds are active against gram-positive bacteria, such as certain Staphylococcus aureus strains, but not gram-negative bacteria, said Connor McDermott, a graduate student in the laboratory of Elizabeth Ambrose, who led the research. This implies the composition of the bacterial membrane is important for the activity of the compounds.

Genetics of People Who Live 105 or Older

A new study of 81 semi-supercentenarianspeople 105 years of age or olderand supercentenarians110 years or older from across Italy, werestudiedby researchers from theUniversity of Bologna, Italy andNestle Research in Lausanne, Switzerland. They compared genetic data from these extraordinary agers to 36 healthy people from the same region whose age, on average, was 68 years. Blood samples were drawn, and whole-genome sequencing was performed. They then compared their data with another previously published study that analyzed 333 Italians over 100 years of age and 358 people who were about 60 years of age. They published their research in the journal eLife.

Scientists identified five common genetic changes that were most frequent in the 105+/110+ groups, between two genes known as COA1 and STK17A. Analysis showed the same variants in the people over 100. Computational analysis predicted these variations most likely modulated the expression of three different genes: STK17A, COA1 and BLVRA.

Junk DNA and Aging

For a long time, so-called junk DNA was thought to play no role in inheritance or metabolism. Increasingly, this non-coding DNA is found to play a significant role in gene regulation. Researchers atWashington State Universityrecently identifieda DNA region called VNTR2-1 that seems to drive telomerase gene activity. In addition, it appears to prevent aging in some types of cells. Telomeres are the ends of chromosomes, and their length is associated with aging that is to say, as the older you get, the shorter they get because every time cells divide, the telomeres get a tiny bit shorter. When they get too short, cells no longer reproduce. But in some reproductive cells and cancer cells, telomerase gene activity resets telomeres to the same length when DNA was originally copied, creating a kind of immortality for those cells.

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The 10 Most Compelling Research Stories of 2021 PharmaLive - PharmaLive