United States: A rare inheritable particularity that appears to have the eventuality to delay the onset of Alzheimer’s complaint in individualities who face a heightened threat of developing this enervating condition. This finding offers stopgap for new avenues of exploration and implicit interventions to combat Alzheimer’s and its ruinous impact on cognitive health.
Key Study Findings
According to research that was published on Wednesday in The New England Journal of Medicine, 27 members of a large Colombian family who had the Christchurch genetic mutation had Alzheimer’s disease many years later than anticipated. The results expand upon a preliminary study from a distinct family susceptible to transmitting the illness in 2019. A woman with the same genetic characteristic, according to the researchers, experienced a roughly three-decade delay in the onset of Alzheimer’s.
Researchers at Mass General Brigham think the data may be utilized to create a treatment or therapy for Alzheimer’s that mimics the preventive benefits of the Christchurch genetic variation.
Why did researchers concentrate on a Colombian family?
The study was limited to South America, and the participants used uncommon data collection. An extended family in Colombia has more than 1,000 people who are nearly guaranteed to get early-onset Alzheimer’s disease due to a genetic abnormality. Usually, the relatives start experiencing symptoms when they are in their mid-40s.
The mutation carriers reside in and around Medellin, Colombia, and comprise an extended family of over 6,000 individuals. Francisco Lopera, a neurologist at the University of Antioquia, found in the 1980s that the family had suffered from this hereditary mutation—handed down from generation to generation—for decades. Medical professionals were able to identify the hereditary mutation that caused early-onset Alzheimer’s in these members, and it was called the paisa mutation, named after the inhabitants of the region.
What did the study examine?
From 1995 to 2022, researchers from the University of Antioquia in Medellin gathered some information about the family involved in the medical studies, and the family was involved in genetic testing and neuropsychological assessments.
There is something like the Paisa mutation, in which the family carries members and developed Paisa mutation. However, the researchers knew the Paisa mutation carriers typically developed memory and thinking problems in their mid-40s and typically developed memory and thinking problems.
What is next for the drug development?
Arboleda-Valasquez, who works as a Harvard Medical School associate in Ophthalmology, said his laboratory is using these study findings to develop potential antibody drugs to Combat Alzheimer’s disease.
By 2026, he wants to start doing clinical trials on humans to evaluate drugs.
Co-author of the study and executive director of Banner Alzheimer’s Institute in Phoenix, Eric Reiman, stated that the findings support the “idea that this rare variant of the major genetic risk factor for Alzheimer’s disease plays a protective role in the development of Alzheimer’s.”
According to Reiman, more investigation is required to determine the underlying function of APOE on disease markers, such as tau tangles and beta-amyloid plaques, which are present in Alzheimer’s patients.
The Christchurch study provides further support for targeting the APOE in the treatment and potential prevention of Alzheimer’s disease.”