Serum metabolomic signatures of patients with rare neurogenetic diseases: an insight into potential biomarkers and treatment targets
Amino acid metabolism was the primary altered super pathway in DMD followed by carbohydrate metabolism and lipid metabolism. In contrast, BMD and LGMD 2A exhibited a more prominent alteration in lipid metabolism followed by amino acid metabolism. In SCAs, primarily lipid, amino acid, peptide, nucleotide, and xenobiotics pathways are affected. Our findings offer new insights into the variance of metabolite levels in MD and SCA, with substantial implications for pathology, drug development, therapeutic targets and clinical management. Intriguingly, this study identified two novel metabolites associated with SCA. This pilot cross-sectional study warrants further research involving larger groups of participants, to validate our findings.
Authors
- Harry W.M. Steinbusch (ORCID: https://orcid.org/0000-0002-7667-0604)
- Athula Dissanayake (ORCID: https://orcid.org/0000-0001-9066-4764)
- K. Ranil D. de Silva (ORCID: https://orcid.org/0000-0002-8738-9412)
- Ashwin Bhikaji Dalal (ORCID: https://orcid.org/0000-0001-5929-745X)
- Harsha Gunasekara (ORCID: https://orcid.org/0000-0002-7103-7770)
- Lakmal Gonawala (ORCID: https://orcid.org/0000-0002-9651-7498)
- Chandra Mohan (ORCID: https://orcid.org/0000-0001-7896-5740)
- Dhammika Amaratunga (ORCID: https://orcid.org/0000-0001-8293-5042)
- Nalaka Wijekoon (ORCID: https://orcid.org/0000-0002-3599-5357)
- Eric P. Hoffman (ORCID: https://orcid.org/0000-0001-6470-5139)
- Yetrib Hathout (ORCID: https://orcid.org/0000-0002-2339-2655)
- Darshana Sirisena
- Pyara Ratnayake (ORCID: https://orcid.org/0000-0001-6105-1651)
Institutions
- Binghamton University (US)
- University of Sri Jayewardenepura (LK)
- Princeton University (US)
- Lady Ridgeway Hospital for Children (LK)
- Teaching Hospital Kandy (LK)
- Maastricht University (NL)
- Colombo North Teaching Hospital (LK)
- University of Houston (US)
- Centre for DNA Fingerprinting and Diagnostics (IN)
Publication Details
- Journal
- Frontiers in Molecular Neuroscience
- Published
- 2025-01-10
- DOI
- https://doi.org/10.3389/fnmol.2024.1482999
- Citations
- 2
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 1.61
Funders
- World Health Organization
- Muscular Dystrophy Association
- Aromatic Plant Research Center
- International Brain Research Organization
- University of Sri Jayewardenepura
- International Society for Neurochemistry
- National Institutes of Health