CALS-Affiliate, Kenneth S. Kosik, makes strides in understanding particular early-onset, genetic form of Alzheimer's

Studying an extended family in Colombia whose members present symptoms of Alzheimer's dementia in their mid-40s, Dr. Kosik and his collaborators have progressed towards an understanding of the paisa mutation of the PSEN1 gene, which allows Alzheimer's to present in children with only one copy of the gene from their parents. By studying this clearly genetically transmitted form of the neurodegenerative disorder, Dr. Kosik aims to compare genetic Alzheimer's with general Alzheimer's that presents with no clear genetic precursors. With state-of-the-art technology, Dr. Kosik and his team have found that in genetic mutations causing Alzheimer's, the autophagy system that identifies and destroys misfolded proteins is faulty, drawing clear differences for future drug trials targeting the progression of the disease. 

By studying the genes of a "survivor" in the family that was not afflicted by Alzheimer's, Dr. Kosik's team also identified the LRP1 gene, previously thought to contribute to the disease, to play a role in destroying tau tangles in astrocyte cells. Dr. Kosik and his team are now working to prove this hypothesis.