This video explains how MELAS syndrome, a rare mitochondrial disease, disrupts the body’s ability to produce energy. It focuses on a mutation in the MT-TL1 gene, which affects mitochondrial protein synthesis and impairs the electron transport chain. This leads to reduced ATP production, lactic acid buildup, and stroke-like symptoms in the brain and muscles. The video also covers how MELAS is diagnosed through genetic testing and imaging, and how treatments like L-arginine, CoQ10, and antioxidants help manage symptoms. BioRender was used to illustrate the defective mitochondrial pathway, and through Fliki AI, an AI-narrated video was created to make the process easy to visualize and understand.
Refrences:
Goto, Y., Nonaka, I., & Horai, S. (1990). A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Annals of Neurology, 28(5), 818–824. https://doi.org/10.1002/ana.410280606
Finsterer, J. (2009). Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): A review. Orphanet Journal of Rare Diseases, 4, 47. https://doi.org/10.1186/1750-1172-4-47
El-Hattab, A. W., & Scaglia, F. (2022). MELAS syndrome. In M. P. Adam, J. M. Mirzaa, G. M. Pagon, et al. (Eds.), GeneReviews®. University of Washington, Seattle. https://www.ncbi.nlm.nih.gov/books/NBK1233/
Images Created in https://BioRender.com
Clinical features, pathogenesis, and management of stroke-like episodes due to MELAS – Scientific Figure on ResearchGate. Available from: https://www.researchgate.net/figure/A-Map-of-the-human-mitochondrial-genome-and-the-secondary-structure-of-tRNALeuUUR_fig4_352356828
Army Medicine. (n.d.). Army Medicine would like to recognize this day to promote awareness of identifying symptoms on World Stroke Day. Picryl. Retrieved November 8, 2025, from https://picryl.com/media/army-medicine-would-like-to-recognize-this-day-to-promote-763590
