C. elegans models for human mitochondrial-associated diseases (HMAD)
In this project using different RNA silencing approaches, we developed new C. elegans models for different HMAD or mitochondriopathies, a wide range of genetically-mediated neurometabolic disorders with devastating effects and fatal outcomes.
We are characterizing mitochondrial and neuronal deficits in these models through a combination of behavioral, genetic and biochemical assays. The ultimate goal of this project is to identify key molecular pathomechanistics players of the diseases exploitable for targeted therapeutic or preventive interventions (pharmacological as well as nutraceutical compounds). Identified candidates are being tested in corresponding mammalian diseases models (already available or under development) in close collaboration with Prof Felix Distelmeir at the pediatric clinic of the UKD.
- van den Ecker D, Hoffmann M, Müting G, Maglioni S, Herebian D, Mayatepek E, Ventura N, Distelmaier F. (2015) Caenorhabditis elegans ATAD-3 modulates mitochondrial iron and heme homeostasis. Biochem Biophys Res Commun. Nov 13;467(2):389-94
- Maglioni S, Ventura N. (2016) C. elegans as a model organism for human mitochondrial associated disorders. Mitochondrion. Sep;30:117-25. Review
- Maglioni S, Arsalan N, Ventura N. (2016) C. elegans screening strategies to identify pro-longevity interventions. Mech Ageing Dev. Jul;157:60-9. Review
- Maglioni S, Mello DF, Schiavi A, Meyer J, Ventura N. (2019) Mitochondrial bioenergetics changes during development as an indicator of C. elegans health-span. Aging (Albany NY). Aug 27;11(16):6535-6554
- Maglioni S, Schiavi A, Melcher M, Brinkmann B, Luo Z, Raimundo N, Laromaine A, Meyer J, Distelmaier F, Ventura N. (2020) Lutein restores synaptic functionality in a C. elegans model for mitochondrial complex I deficiency. bioRxiv doi: https://doi.org/10.1101/2020.02.20.957225