Sarcouncil Journal of Medicine and Surgery
Sarcouncil Journal of Medicine and Surgery
An Open access peer reviewed international Journal
Publication Frequency- Monthly
Publisher Name-SARC Publisher
ISSN Online- 2945-3534
Country of origin- PHILIPPINES
Impact Factor- 3.6
Language- English
Keywords
- Physicians, Surgeons, Conservation medicine, Disaster medicine, Forensic medicine, Gender-based medicine, Therapeutics, Veterinary medicine, Allergology, General Practice, Internal medicine, Laboratory medicine, Nuclear medicine.
Editors
Dr Hazim Abdul-Rahman
Associate Editor
Sarcouncil Journal of Applied Sciences
Entessar Al Jbawi
Associate Editor
Sarcouncil Journal of Multidisciplinary
Rishabh Rajesh Shanbhag
Associate Editor
Sarcouncil Journal of Engineering and Computer Sciences
Dr Md. Rezowan ur Rahman
Associate Editor
Sarcouncil Journal of Biomedical Sciences
Dr Ifeoma Christy
Associate Editor
Sarcouncil Journal of Entrepreneurship And Business Management
Metabolomics of MNGIE Depends on the Individual TYMP Variant, Secondary mtDNA Defects, and Current Medications
Keywords: MNGIE, metabolomics, TYMP, mtDNA, MELAS.
Abstract: We read with interest the article by Du, et al., on metabolomic changes and homeostatic regulation in three TYMP-deficient patients assessed by targeted and non-targeted metabolomic techniques applied to serum and skin fibroblasts [Du, J. et al., 2023]. The results were compared to those of three m.3243A>G carriers and four healthy controls [Du, J. et al., 2023]. Specific changes in nucleosides, bile acids, and steroid metabolism have been found in the plasma of MNGIE patients [Du, J. et al., 2023]. In skin fibroblasts mitochondrial dysfunction, decreased cholesterol metabolism and decreased fatty acid biosynthesis and degradation have been found [Du, J. et al., 2023]. The study is excellent but has limitations that should be discussed.
Author
- Josef Finsterer
- MD; PhD; Neurology & Neurophysiology Center; Vienna; Austria.