Sciences and Mathematics, College of
Biology, Department of
BURS Faculty Advisor
Riboflavin deficiency and/or mutation of riboflavin transporters are the major contributors towards rare pediatric neurodegenerative disorders. Riboflavin Transporter Deficiency, RTD, particularly affects motor neurons leading to common symptoms involving impaired neuropathy at varying regions within the body.1 Some examples include sensorineural hearing loss, muscle weakness, and feeding and speech impairment.1 Recent studies have included the use of mammalian, specifically human, riboflavin transporters and FAD forming enzymes which showed proper riboflavin intake by plasma and mitochondria membranes is critical to maintaining cellular functions such as FAD homeostasis and cellular flavoprotein activities.2 These studies have found a link between either riboflavin deficiency or riboflavin transport mutation to be a causative or additive of symptoms towards RTD.3 Riboflavin transporters are highly expressed in intestinal cells where the majority of riboflavin intake occurs via plasma and mitochondrial membranes.2 However, little work has been done on the cell biology of deficiency riboflavin and mutation of riboflavin transporters. Interesting dynamics to explore would be the impact of riboflavin deficiency in mitochondrial dynamics and interactions of mitochondria with lysosomal organelles in intestinal epithelial cells. To investigate this, experimentations will involve growth, observation, and comparison of mitochondrial dynamics in riboflavin deficient environments. Specifically, the comparison of dynamics or change within COS-7 and epithelial intestinal cells with an emphasis on mitochondrial organelle propagation. Imaging with microscopy and analysis of data shows a trend of lower counts of mitochondria in cells depleted of riboflavin for both cell lines.
(1) Signs & symptoms. Cure RTD. (2022, March 12). Retrieved February 3, 2023, from http://curertd.org/what-is-rtd/symptoms/ (2) Yonezawa, A., & Inui, K.-ichi. (2013). Novel riboflavin transporter family RFVT/SLC52: Identification, nomenclature, functional characterization and genetic diseases of RFVT/SLC52. Molecular Aspects of Medicine, 34(2-3), 693–701. https://doi.org/10.1016/j.mam.2012.07.014 (3) Barile, M., Giancaspero, T. A., Leone, P., Galluccio, M., & Indiveri, C. (2016). Riboflavin transport and metabolism in humans. Journal of Inherited Metabolic Disease, 39(4), 545–557. https://doi.org/10.1007/s10545-016-9950-0