Thursday, June 20, 2024

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

June 10, 2010 by  
Filed under Featured Stories

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 lysosomes.

The paper abstract is: Lysosomal Proteolysis and Autophagy Require Presenilin 1 and Are Disrupted by Alzheimer-Related PS1 Mutations.

Dr. Nixon’s amazing research work indicates that Alzheimer’s disease has a major lysosomal component and could be a  lysosomal storage disease.  Alzheimer’s patients presenilin 1 gene disruptions cause toxic proteins to accumulate in the internal cell structure  – the lysosome. 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 imagine the hits on the Wikipedia lysosomal storage disease page are through the roof today because most people (including Alzheimer’s researchers!)  connect lysosomal storage diseases with ultra rare diseases.

There are approximately 50 rare inherited metabolic disorders that result from defects in lysosomal function. It appears from this paper that lysosomal storage diseases are not so rare after all!  Apparently, the groundbreaking research has generated lots of interest with drug companies.

Alzheimer’s is very similar to Niemann Pick Type C disease (NPC), 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 dementia 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?


3 Responses to “Alzheimer’s Patients Presenilin 1 Gene Defect Causes A Lysosomal Storage Disorder”
  1. Laura Wolf says:

    Just saw your story on Sanjay Gupta’s program. It is all at once heartbreaking, frustrating, fascinating, and inspirational! You said that this compound might work for Alzheimer’s patients; I wonder if there are any current research or trials for that use?

    Thank you for sharing your story. You and your husband are champions for so many families. Add mine to the many prayers and best wishes for your girls! Y’know, we parents like to think we’re passing our legacies on with our children for future realization. You two have already given so much more to the world! My heroes!

  2. catherine calhoun says:

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

    Hoping so.

    • kal says:

      im really sorry to hear about that fatal condition that your twins have :,( i came across this site because im doing a paper for my college prep class

      kali r

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