Researchers Find Mutations in Common Enzyme May Cause Progression of Alzheimer’s

Alzheimer’s is the most common cause of dementia. This brain disease causes problems with memory, thinking, and behavior and affects more than 5 million Americans. A team of researchers from Tokyo Metropolitan University now believe they’ve identified the mutation in a common enzyme responsible for the clumps of sticky proteins that collect in the brains of patients with Alzheimer’s disease. 

The enzyme they identified is called microtubule affinity-regulating kinase 4 (MARK4). This enzyme “facilitates the detachment of proteins from microtubules (polymers that provide the shape and structure of the cell), which in turn control cell division, cell cycle control, and – importantly – cell shape alterations,” according to IFLScience.com. “In healthy cells, MARK4 is hard at work detaching microtubules from the cell to allow it to divide and change.”

In this study, published in the Journal of Biochemistry,  the researchers used drosophila models and mutated MARK4 to observe how mutations within the gene change the structure of tau, a microtubule-associated protein, predominantly expressed in the neurons. In the mutated tau the researchers “found that the tau functioned abnormally and created clumps of insoluble proteins within the brain. With these aberrant clumps of misfolded proteins present, neurons degenerate and die off, which potentially results in the presentation of Alzheimer’s disease,” Jack Dunhill writes. Further research will need to be conducted in order to understand how important this mutation is, but in the meantime, this is a significant step in further understanding Alzheimer’s.