Danon disease: From genetic origins and molecular defects to therapeutic advances

Danon disease is characterized by mutations in the LAMP2 gene that lead to severe symptoms including hypertrophic cardiomyopathy and cognitive deficits.

• The LAMP2 gene mutations cause a critical deficiency of LAMP-2, particularly the LAMP-2B isoform.
• This deficiency disrupts normal autophagy, leading to the accumulation of defective cellular components.
• Recent findings indicate that mitochondrial dysfunction and fragmentation are significant factors in the progression of Danon disease.
• Patient-specific stem cells and LAMP-2-deficient animal models have enhanced the understanding of the disease's molecular mechanisms.
• Gene therapy is emerging as a promising therapeutic strategy based on encouraging preliminary results and ongoing studies.

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