Italian researchers discover new gene mutation linked to Alzheimer's disease

Jan 19, 2025 224

BY: We the Italians Editorial Staff

Italian researchers have made a groundbreaking discovery in the field of Alzheimer's disease, identifying a new gene mutation linked to the onset of the condition. The gene, named GRIN2C, has been found to play a significant role in the development of Alzheimer's, offering new insights into the genetic factors contributing to the disease.

This discovery is the result of a collaborative effort involving scientists from the Molinette Hospital in Turin, the University of Turin, and the Italian National Research Council (CNR). The researchers identified the GRIN2C mutation by studying the genetic makeup of families with a history of early-onset Alzheimer's.

The gene mutation is believed to disrupt the normal function of the brain’s synaptic connections, which are crucial for memory and cognitive function. The malfunctioning of these synapses may accelerate the degeneration of brain cells, a hallmark of Alzheimer's disease.

This discovery is significant because it highlights a previously unknown genetic factor involved in the development of Alzheimer's, which could lead to new diagnostic tools and targeted therapies. It also opens up new possibilities for understanding the complex mechanisms behind the disease, which remains one of the greatest medical challenges worldwide.

The research, published in a prominent scientific journal, underscores the importance of genetics in Alzheimer's disease and reinforces the growing body of evidence that suggests certain genetic mutations can increase an individual's risk of developing the condition. In particular, the GRIN2C gene mutation is considered to be a rare but potent factor in the development of early-onset Alzheimer's, a form of the disease that typically appears before the age of 65.

For the researchers, this discovery represents a crucial step in understanding the genetic foundations of Alzheimer's. It also marks an important advancement in the ongoing efforts to identify genetic markers for the disease, which could eventually lead to personalized medicine strategies aimed at preventing or delaying the onset of Alzheimer’s in individuals at higher risk.

While this discovery is promising, researchers stress that further studies are necessary to fully understand the role of GRIN2C in Alzheimer's disease and to explore potential treatments. The work is part of a broader international effort to unlock the genetic causes of Alzheimer’s and to find effective ways to combat the disease, which currently affects millions of people around the world.

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