Anjali Kumari, IILM College of Engineering and Technology
The international team of scientists in Sweden has discovered a new gene mutation that is linked to the early onset of the Alzheimer’s disease. This has been done by tracing the DNA flaw through various members of a single family.
What is Alzheimer’s disease?
Alzheimer’s also called as senile dementia, has been long known as a progressive mind-robbing disease that erase out the memory and other important mental functions. It usually begins after the age of 65 with mild memory loss and then possibly lead to loss of the ability to carry on a conversation and respond to the environment. This disease is thought to be caused by the abnormal accumulation of proteins in and around the brain cells.
What is early onset Alzheimer’s disease?
Alzheimer’s that begins before the age of 65 is termed as early onset.
A neurobiologist in Sweden along with his international team of scientists has identified an extraordinary and rare form of the Alzheimer’s disease that has been so far found in various members of only one family. This early onset of the disease is very quick and threatening that steals the person’s most productive years of life. This form of the Alzheimer’s disease has been named as the Uppsala APA deletion – after the family who have been diagnosed with the flagrant DNA miscue.
Dr. Maria Pagnon de la Vega, affirmed that the individuals who are affected with this kind of Alzheimer’s have symptoms onset in their early 40s and then the disease rapidly progresses with time. This study involved a large team of neuroscientists, structural and molecular biologists from the Department of Public Health and Caring Sciences at Uppsala University in Sweden. In this research the scientists found that the mutation hastens the production of brain damaging protein plagues called as amyloid beta, or AB. The viscous plagues demolish the neurons and decimate the governing functions of the brain. The governing functions of the brain is basically defined as working memory, self-control and mental stability of flexibility.
The other forms of the Alzheimer’s disease has been allied to the mutations in the APP gene but this form of early onset is a deletion that is verified by Pagnon de la Vega and colleagues by means of biological and structural research, genetic analysis, studies of protein chemistry and amino acid and mass spectrometry that permeates the brain tissues of mutation carriers.
The family story behind the genetic discovery:
Seven years ago, two siblings of age 40 and 43 years, went to a memory disorder clinic at Uppsala University Hospital in Sweden, where they were diagnosed for problems like fading memory, losing their sense of feeling and direction and evading mental sharpness. But they weren’t the only ones as one of their relative who was also in the same age group was experiencing nearly the same symptoms.
All three were investigated and hence was diagnosed with early onset Alzheimer’s disease. Prior to that, the physicians had treated the father of the two siblings, two decades earlier. His symptoms also emerged in the early 40s. When the two siblings and their relative arrived at the doctors’ clinic, they all were having serious trouble in speaking and they were not able to perform simple math. Their governing brain functions was also disturbed and their brain scans explained the hallmarks of Alzheimer’s. The researchers defined this form of early onset Alzheimer’s disease as autosomal dominant, which passed from one generation to another and was moving rapidly downhill.
Conclusion:
Alzheimer’s disease has no cure till date, whether it is genetic or sporadic and has a total cost of $355 billion in the US alone.
According to the World Health Organization ,this disease is expected to overwhelm the global healthcare systems by the year 2050, unless and until a cure is found.
Also read: Do Bulls have anger issues associated with Red Colour?
Reference:
- Pagnon de la Vega, M., Giedraitis, V., Michno, W., Kilander, L., Güner, G., Zielinski, M., Löwenmark, M., Brundin, R., Danfors, T., Söderberg, L., Alafuzoff, I., Nilsson, L. N. G., Erlandsson, A., Willbold, D., Müller, S. A., Schröder, G. F., Hanrieder, J., Lichtenthaler, S. F., Lannfelt, L., … Ingelsson, M. (2021). The Uppsala APP deletion causes early onset autosomal dominant Alzheimer’s disease by altering APP processing and increasing amyloid β fibril formation. Science Translational Medicine, 13(606), eabc6184. https://doi.org/10.1126/scitranslmed.abc6184
- The Corrosion Prediction from the Corrosion Product Performance
- Nitrogen Resilience in Waterlogged Soybean plants
- Cell Senescence in Type II Diabetes: Therapeutic Potential
- Transgene-Free Canker-Resistant Citrus sinensis with Cas12/RNP
- AI Literacy in Early Childhood Education: Challenges and Opportunities
One thought on “A rare and aggressive form of early onset Alzheimer’s disease”