Scientists Believe To Have Found A Gene Mutation That May Increase The Risk Of Developing AD

Scientists from the Boston University School of Medicine (BUSM) believe they have found modifications in a new gene, PLXNA4, which may be a risk factor in Alzheimer’s Disease (AD) development.

According to a recent article on Genetic Engineering News, researchers used data from a previous study, the Framingham Heart Study, and observed an association between single nucleotide polymorphism and PLXNA4, a gene that wasn’t previously linked to AD.

After the first set of experiments and evidence, the team referred back to the Alzheimer’s Disease Genetics Consortium and other datasets, and performed a series of experiments in models that identified the mechanism through which this gene may trigger Alzheimer’s.

The BUSM team also believes that a form of the protein encoded by this gene leads to the development of neurofibrillary tangles of decomposed tau protein, one of the two pathological signs of AD.

Scientists involved in the study believe that this discovery may lead to the development of new treatment options based on this particular modification of the PLXNA4, since most therapies that have been designed for treating AD ” . . . are intended to reduce the toxic form of beta-amyloid, a sticky substance that accumulates in the brain of persons with AD, and none have been very effective,” explained one of the research team members, Lindsay Farrer, Ph.D., chief of biomedical genetics and a professor of medicine, neurology, ophthalmology, epidemiology, and biostatistics at BUSM. “Only a few drugs have targeted the tau pathway.”

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Farrer also noted that this recent study is one of the few that has analyzed a large part of the process, “from gene finding to mechanism.”

Alzheimer’s disease is a neurodegenerative pathology characterized by the brain cell death. Initially, the most common symptom is memory loss, but as the disease develops, it compromises all cognitive functions and all of a patient’s autonomy.

Although there are many studies related to this disease, it is hard to determine the exact cause of it. It is known that genetic factors may be a risk factor, as well as environment.

AD is the most common age-related dementia, affecting 5.4 million Americans, 13% of which over 65 years old and more than 40% over the age of 85.