New brain disease research reveals promising early diagnosis and treatment methods for diseases like Parkinson’s and Alzheimer’s.
In this month’s brain news roundup, we look at how exciting new research is giving us a deeper understanding of Alzheimer’s and Parkinson’s disease. We also discuss the impact of genetic testing on brain disease and review a groundbreaking study about vitamin D and dementia.
Researchers Identify Chemical Compound That May Short-Circuit Brain Cell Death in Parkinson’s Disease
Promising new research has identified a chemical compound that could prevent the most damaging effects caused by Parkinson’s disease. Parkinson’s is caused by a buildup of misfolded proteins in the brain. As the misshapen proteins clump together, they kill brain cells responsible for creating dopamine, leading to impaired movement and cognition. Previous studies revealed that brain cell death is ultimately caused when a protein called parthanatos associated apoptosis-inducing factor nuclease (PAAN) destroys the cells’ DNA. However, PAAN also has several important functions in the brain, so it’s crucial that any Parkinson’s treatments targeting this protein keep those functions intact.
Researchers screened thousands of chemicals in the Johns Hopkins Drug Library for any that would block PAAN from breaking down DNA molecules. After extensive testing, they identified one chemical (PAANIB-1) that can prevent brain cell death without affecting the PAAN protein’s other crucial functions. Researchers plan to continue screening for more chemicals that can safely block PAAN’s role in brain cell death. This is an exciting lead in the search for improved methods of treating Parkinson’s and other neurodegenerative diseases.
Johns Hopkins Medicine researchers have discovered a sugar molecule that may play a key role in the development of Alzheimer’s disease. If further research confirms their findings, knowledge of this molecule could affect diagnostic tests, treatments, and potentially even Alzheimer’s disease prevention.
Alzheimer’s disease occurs when nerve cells in the brain are killed by a buildup of harmful proteins. Normally the brain’s immune cells routinely clean up these proteins, but this process is impaired in people who have Alzheimer’s disease. This impairment can be caused by too many molecules called glycoproteins connecting to the receptors on the immune cells. In order to find out which glycoprotein causes this issue, researchers studied brain tissue from five people who died of Alzheimer’s disease and five people who died of other causes. This allowed them to identify the specific glycoprotein active in the development of Alzheimer’s.
“Identifying this unique glycoprotein provides a step toward finding new drug targets and potentially early diagnostics for Alzheimer’s disease,” says Anabel Gonzalez-Gil Alvarenga, PhD, postdoctoral fellow in the Schnaar laboratory and first author of the study. Researchers plan to further study this glycoprotein to learn how it interacts with immune cells in the brain.
Recent advancements in genetics research are helping doctors study, diagnose, treat, and manage brain diseases and disorders in new ways. “Up until recently, genetic testing has been underused in neurology, especially for adult diseases,” says Lola Cook, a genetic counselor in the department of medical and molecular genetics at the Indiana University School of Medicine in Indianapolis. “Now we are beginning to learn more about major gene variants as well as multiple minor changes that make genetic contributions to a wide range of neurologic disorders.”
There are two categories of genes that affect whether someone may develop a disease. Causative genes are responsible for the actual development of a disease, while risk genes can increase the likelihood of a disease developing under certain conditions. For now, genetic testing is most effective when used to identify individual causative genes. This can aid in diagnosing conditions like SMA, fragile X, and Huntington’s disease, which are caused by changes in one gene. Confirming a genetic diagnosis can improve someone’s prognosis and let family members know about their risk of also carrying the gene.
Currently, this type of genetic testing is less helpful for neurologic conditions like Parkinson’s disease, multiple sclerosis (MS), and Alzheimer’s disease because these conditions are more often caused by variants in multiple risk genes than a single causative gene. Researchers are still learning how different gene variants may cause neurologic disorders and how genetic testing can improve diagnosis and treatment.
Dementia affects more than 55 million people worldwide, causing a range of cognitive and behavioral problems for those affected who suffer from any of its forms (such as Alzheimer’s disease and Lewy body dementia). However, new research could have a big impact on these neurodegenerative conditions. A recent study from the University of South Australia showed a direct link between dementia and insufficient vitamin D. Utilizing genetic research, the study found that low vitamin D levels were associated with an increased risk of dementia and stroke. Researchers found that in some populations, as much as 17% of dementia cases could be prevented by increasing vitamin D levels.
“Dementia is a progressive and debilitating disease that can devastate individuals and families alike,” says Professor Elina Hyppönen, senior investigator and director of UniSA’s Australian Centre for Precision Health. “If we’re able to change this reality through ensuring that none of us is severely vitamin D deficient, it would also have further benefits and we could change the health and wellbeing of thousands.”