University of Buffalo Discovers Human-Specific Gene Protects Neurons Against Amyloid Beta Protein

University of Buffalo (UB) researchers have uncovered a promising drug target for Alzheimer’s, which previously succeeded in animal studies only to fail in human studies. This could still prove to be a valuable therapy reports Ellen Goldbaum writing or the University of Buffalo.

A UB team identified the first human-specific fusion gene—a hybrid of two genes—implicated in Alzheimer’s disease.  The finding suggests a neurotransmitter receptor, previously successful in animal studies but that failed in human trials for Alzheimer’s, might still out to be a valuable therapy.

UB researchers published a paper in Translational Psychiatry that articulated human fusion gene acts on a receptor for the neurotransmitter acetylcholine, which is involved in memory and learning, and which becomes reduced in the case of Alzheimer’s.

Known as CHRFAM7A or the fusion gene, it is common in people and may be implicated in many neuropsychiatric disorders (e.g. schizophrenia, bipolar, etc.).  The UB researchers believe that the fusion gene can play a role in Alzheimer’s disease. The fusion gene between gene coding and alpha 7 nicotinic acetylcholine receptor—a promising but thus far unsuccessful target for Alzheimer’s, and a kinase, an enzyme.  Dr. Kinga Szigeti notes “Alpha 7 has long been associated with Alzheimer’s but several alpha 7 medications have worked in animal models and failed in human studies. Perhaps this fusion gene is the reason for the translational gap.” Moving forward, the UB scientists believe a more personalized approach to each patient may be required, based on their CHRFAM7A genotype.

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Lead Research/Investigator

Kinga Szigeti, MD, PhD

Note multiple UB authors were involved. See source document for full list.