At the Tufts University School of Medicine, researchers have uncovered a molecular mechanism that eventually leads to a build-up of amyloid beta, which is a major cause of Alzheimer’s disease. They describe this mechanism as a “traffic jam” of enzymes that travel throughout neuronal axons. A better understanding of how and why this disease occurs is the first step in curating treatments, so this discovery is very important for Alzheimer’s research.
About Alzheimer’s Disease
Alzheimer’s disease is a progressive disorder that causes the degeneration and death of brain cells. It occurs in stages, with severity increasing as time goes on. In the later stages of the disease, people will experience significant memory loss and be unable to carry out everyday tasks. The major symptom of this condition is memory loss. Other issues that people experience include problems with thinking and reasoning, making judgments and decisions, planning and completing familiar tasks, and more. They will experience changes in personality and behavior. Other complications can also arise from Alzheimer’s, such as aspiration, pneumonia, infections, falls, fractures, bedsores, malnutrition, and dehydration.
Medical professionals believe that Alzheimer’s is caused by a combination of genetic, environmental, and lifestyle factors. What healthcare professionals do know is that brain cells deteriorate and die. They also suspect that plaques and tangles, which are both proteins, play an important role. There are risk factors that may heighten the chances of developing Alzheimer’s disease. Age is a major factor, as people usually develop this condition after 65. If one has a relative that is affected, they are also at a higher risk. Females are also affected at a higher rate than males. Those with past head trauma, poor sleeping patterns, poor exercise patterns, or other unhealthy lifestyle habits have a higher chance of Alzheimer’s disease.
About the Discovery
The study was published in Science Translational Medicine and focused on a gene that had already been discovered: Gga3. Investigating this gene further, researchers found that if it is mutated or missing, there is a ‘traffic jam’ of the enzyme BACE1. This jam then results in axonal swelling and clogging. Researchers also found that if the activity of the gene is disrupted, then the accumulation and traffic stop as well.
Because a toxic accumulation of amyloid beta results in Alzheimer’s after a considerable amount of time has passed, medical professionals wonder if inhibiting the Gga3 gene at the beginning of disease onset would be more helpful. When administering BACE1 inhibitors to mice in the earliest stages of the disease, they found that treatment prevented axonal swelling and BACE1 traffic.
Diving even further into research of the Gga3 gene, medical professionals at Tuft also found that a mutated or missing gene is more common in African-Americans. While more investigation needs to be done, this may make diagnosis easier in the future.
Overall, the discovery of a mutated Gga3 gene is extremely important to Alzheimer’s research. Hopefully it will lead to the creation of treatments that better the lives of patients.
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