Italian Researchers Identify Rare Gene Mutation Linked to Alzheimer’s Disease

Italian Researchers Identify Rare Gene Mutation Linked to Alzheimer’s Disease

Prime Highlights:

Scientists in Italy identified a rare mutation in the GRIN2C gene, linked to Alzheimer’s disease, in a family with multiple affected members.

The mutation was found only in the six family members diagnosed with late-onset Alzheimer’s, with none of the healthy relatives carrying the mutation.

This is the first study to propose the GRIN2C mutation as a potential cause of Alzheimer’s disease, offering new insights into its genetic origins

Key Background:

In a groundbreaking study, scientists in Italy have uncovered a rare genetic mutation that may be a significant factor in the development of Alzheimer’s disease. The discovery, which centers on the GRIN2C gene, offers new insights into the genetic causes of the neurodegenerative disorder.

The research, published in Alzheimer’s Research & Therapy, focused on a family in northern Italy where multiple members developed late-onset Alzheimer’s. Among 15 relatives, six individuals had been diagnosed with the disease, and genetic testing revealed that all six carried a mutation in the GRIN2C gene. This gene plays a crucial role in memory and learning, with the mutation found exclusively in the affected individuals. None of the nine other family members, who remained healthy, carried the mutation.

This finding is the first to suggest a direct link between the GRIN2C mutation and Alzheimer’s, marking a significant step forward in understanding the genetic underpinnings of the disease. Alzheimer’s, which affects approximately 7 million people in Europe, is characterized by the death of brain cells, leading to memory loss, cognitive decline, and behavioral changes. The condition typically worsens over time, and while its causes are not fully understood, a combination of genetic, environmental, and lifestyle factors is believed to contribute to its onset.

Experts emphasize that while this discovery is significant, further research is needed. Peter Giese, a neurobiology professor at King’s College London, noted the importance of genetic studies like this one, which provide clearer insights into the potential drivers of Alzheimer’s. He suggested that the next step should involve testing the mutation in animal models or laboratory settings to determine its precise impact on brain function and explore potential treatments. The study offers hope for a deeper understanding of Alzheimer’s and could pave the way for the development of targeted therapies in the future.

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