A human gene present in 75 percent of the population is a key reason why a class of drugs for Alzheimer’s disease seemed promising in animal studies but failed in human studies.
While a previous study investigated the function of the gene in tissue culture,
A human gene present in 75 percent of the population is a key reason why a class of drugs for Alzheimer’s disease seemed promising in animal studies but failed in human studies.
While a previous study investigated the function of the gene in tissue culture, this is the first time that researchers have clinically shown the drugs’ effect based on a patients’ genotype.
The researchers caution that the study has its limitations and randomized double blind studies are necessary to confirm the results.
Different approaches for Alzheimer’s disease
“This research provides proof of concept that since different mechanisms are at work in Alzheimer’s in different patients, we need to develop more personalized treatments that will prove more effective in individuals,” says Kinga Szigeti, director of the Alzheimer’s Disease and Memory Disorders Center at the University at Buffalo, part of UBMD Neurology, and associate professor of neurology in the Jacobs School of Medicine and Biomedical Sciences.
The gene, CHRFAM7A, is a fusion between a gene that codes for an Alpha 7 receptor for acetylcholine, a neurotransmitter involved in memory and learning and long associated with Alzheimer’s, and a kinase, a type of enzyme.
Szigeti explains that the gene is present in two flavors, a functional gene and one that is not made into protein.
“This splits the population 1-to-3 between non-carriers and carriers,” says Szigeti. CHRFAM7A has been implicated in many neuropsychiatric disorders, such as schizophrenia and bipolar disease.
Szigeti explains that three of the four drugs now available for Alzheimer’s work by stimulating all receptors that respond to acetylcholine. More specific drugs for Alpha 7 have been in development for over 10 years but failed when moved to the clinical phase.
The human fusion gene modulates the Alpha 7 receptor, one of the receptors binding amyloid beta, the protein that is the hallmark of Alzheimer’s that disrupts neuronal communication.
“Since this human