JAMA Neurol: The "cause" of Alzheimer's disease, a gene that drives the brain's amyloid plaques for the first time

Alzheimer's disease (AD) is a degenerative diseaseIn the early stages, AD is characterized by the accumulation and memory loss of amyloid beta and tau proteins in the brainToxic beta-amyloid molecules have accumulated in the patient's brain as early as 15-20 years before the onset of Alzheimer's diseaseWhen a patient's consciousness is impaired, the neurons in the brain have died in large numbers, leading to brain atrophyin this case, it is difficult to save dead neurons by using drugs to remove amyloid deposits or nerve fiber seupsothingThis is one of the reasons why the medical treatment of Alzheimer's has not worked well since it was discovered in 1907Researchers have been looking for "the culprits" of excessive accumulation of amyloid protein in the brains of Alzheimer's patientsA study led by researchers at Columbia University's Irvine Medical Center in the United States has identified the first "culprit" gene that drives amyloid plaques in the brain,
of the brainThe findings could lead to new treatmentsAlzheimer's disease, as well as better ways to identify people at greatest risk of developing the diseaseThe findings were published June 22 in the journal JAMA,Doi: 10.1001/jamaneurol.2020.1760specifically, in order to find the genes that drive the accumulation of early amyloid protein, the latest study examined the genomes of 4,300 people whose PET images showed amyloid deposits in the brain but had not yet developed Alzheimer's disease "By studying people with early-stage Alzheimer's disease, we can identify genes associated with the onset of the disease," said Dr Richard Mayeux, a professor of neurology at Columbia University's Wagulos School of Medicine and The College of Surgeons who led the study These genes may lead to therapies that prevent the development of disease "
RBFOX1 and APOE variants linked to amyloid levels in the brains of people at risk of Alzheimer's disease
a genetic analysis found a link between amyloid protein deposits and APOE and a new gene, RBFOX1 About 10 percent of the study subjects (mainly European descent) had RBFOX1 mutations associated with the appearance of amyloid protein deposits RBFOX1 appears to increase the concentration of the protein fragments that make up these plaques and may cause key connections between neurons to break exactly reveal how RBFOX1 regulates amyloid plaques, which may lead to ways to prevent plaque build-up Previous studies have shown that RBFOX1 is involved in the formation of amyloid precursors and the destruction of synapses between neurons The connection between RBFOX1 and amyloid plaques may be relatively easy to untangle This is different from the connection between APOE4 and amyloid proteins, and decades of research remain unexplained "I think we're going to find that these signs of the final disease can really fight Alzheimer's disease," Mayeux said It is almost impossible to change the course of the disease when the symptoms of Alzheimer's are present Because by then the disease had developed for 10 to 15 years If we can target genes that activate amyloid and correct these problems in some way, we may be able to prevent the disease "