The cause of Danon Disease is known, but not well-understood. The genetic defect involves a 'gene'
called LAMP2. In persons with Danon Disease the LAMP2 gene is damaged (or 'mutated') and normal LAMP2 protein is no longer
made. While we do not fully understand what the function of the LAMP2 gene is, we do know that LAMP2 protein is located in
small structures in our cells called lysosomes. Lysosomes are important in helping our cells get rid of waste products (proteins,
sugars, fats, etc. that we no longer need). How a lack of LAMP2 protein disrupts the function of the lysosomes is not known.
Dr. Professor Jean-Marie Saudubray has written a nice accessible review of Danon Disease for physicians [ LINK ].Please check back at our site as we hope to provide some information about the cause of Danon Disease for the lay public shortly.
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Click the link to the right to download a short paper about Danon
disease.
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