| Title: |
Highlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease |
| Authors: |
Marta Moschetti; Marika Venezia; Miriam Giacomarra; Emanuela Maria Marsana; Carmela Zizzo; Giulia Duro; Annalisa D’Errico; Paolo Colomba; Giovanni Duro |
| Source: |
International Journal of Molecular Sciences ; Volume 26 ; Issue 2 ; Pages: 757 |
| Publisher Information: |
Multidisciplinary Digital Publishing Institute |
| Publication Year: |
2025 |
| Collection: |
MDPI Open Access Publishing |
| Subject Terms: |
Pompe disease; glycogen metabolism; skeletal muscle disease; epigenetics; artificial intelligence (AI) |
| Subject Geographic: |
agris |
| Description: |
Pompe disease is a neuromuscular disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA), which leads to lysosomal glycogen accumulation and progressive development of muscle weakness. Two distinct isoforms have been identified. In the infantile form, the weakness is often severe and leads to motor difficulties from the first few months of life. In adult patients, the progression is slower but can still lead to significant loss of mobility. The current inherent difficulties of the disease lie in both early diagnosis and the use of biomarkers. Given that this is a multifactorial disease, a number of components may exert an influence on the disease process; from the degree of pre-ERT (enzyme replacement therapy) muscle damage to the damaged autophagic system and the different pathways involved. What methodology should be employed to study the complex characteristics of Pompe disease? Our approach relies on the application of genetic and epigenetic knowledge, with a progression from proteomics to transcriptomics. It is also becoming increasingly evident that artificial intelligence is a significant area of interest. The objective of this study is to conduct a comprehensive review of the existing literature on the known data and complications associated with the disease in patients with disorders attributed to Pompe disease. |
| Document Type: |
text |
| File Description: |
application/pdf |
| Language: |
English |
| Relation: |
Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms26020757 |
| DOI: |
10.3390/ijms26020757 |
| Availability: |
https://doi.org/10.3390/ijms26020757 |
| Rights: |
https://creativecommons.org/licenses/by/4.0/ |
| Accession Number: |
edsbas.AF32D2F3 |
| Database: |
BASE |