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Alzheimer’s Patients Presenilin 1 Gene Defect Causes A Lysosomal Storage Disease

Posted Jun 10 2010 4:47pm

A research paper by Dr. Ralph Nixon, director of the Center of Excellence on Brain Aging and the Silberstein Alzheimer’s Institute at NYU Langone Medical Center, was published today in the journal Cell reporting that Alzheimer’s patients with genetic mutations in the presenilin 1 gene have disruptions in the cellular protein recycling process mechanisms in their lysosome. The papers title is: Lysosomal Proteolysis and Autophagy Require Presenilin 1 and Are Disrupted by Alzheimer-Related PS1 Mutations .

Dr. Nixon’s amazing work indicates that Alzheimer’s disease is most likely a lysosomal storage disease . As a result the Alzheimer’s patients presenilin 1 gene disruptions, toxic proteins accumulate in the internal cell structure. The failure results in a clump of proteins known as beta-amyloids to form in the brain and also leads to neuronal cell death.

I bet the hits on Wikipedia’s lysosomal storage disease page are through the roof because most people (including Alzheimer’s researchers!) only know of lysosomal storage diseases as rare diseases.  There are approximately 50 rare inherited metabolic disorders that result from defects in lysosomal function.  I guess lysosomal storage diseases are not so rare anymore!  This should make the drug companies come running!

Alzheimer’s is very similar to Niemann Pick Type C disease (NPC), which is a well characterized lysosomal storage disease where cholesterol accumulates in the lysosome causing neurons to die.  My six year old identical twins, Addi and Cassi, have the fatal condition and have increases in beta amyloid, tau, hypometabolism developing in their brains, elevated oxysterols – many of the same symptoms seen in Alzheimer’s patients.

Maybe my prediction that cyclodextrin could also help Alzheimer’s patients will turn out to be true?



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