Highlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease

Area of Science:

• Biochemistry
• Genetics
• Neurology

Background:

• Pompe disease is a rare neuromuscular disorder caused by acid alpha-glucosidase (GAA) enzyme deficiency, leading to glycogen buildup in lysosomes.
• It manifests in infantile and adult forms, both causing progressive muscle weakness and mobility loss, with diagnostic and biomarker challenges.
• Disease complexity arises from multifactorial influences, including pre-treatment muscle damage, autophagic system dysfunction, and various molecular pathways.

Purpose of the Study:

• To conduct a comprehensive literature review on Pompe disease.
• To examine known data and complications associated with Pompe disease.
• To explore methodologies for studying the complex characteristics of Pompe disease.

Main Methods:

• Literature review of existing data on Pompe disease.
• Application of genetic and epigenetic knowledge.
• Progression from proteomics to transcriptomics, with an interest in artificial intelligence.

Main Results:

• The review synthesizes current knowledge on Pompe disease pathophysiology and clinical manifestations.
• Identifies challenges in early diagnosis and the utility of biomarkers.
• Highlights the multifactorial nature of the disease, involving genetic, epigenetic, and cellular pathway interactions.

Conclusions:

• Understanding Pompe disease requires integrating genetic, epigenetic, proteomic, and transcriptomic data.
• Artificial intelligence shows promise in analyzing complex disease data.
• Further research is needed to address diagnostic and therapeutic challenges in Pompe disease.