Líf - og heilbrigðisvísindaráðstefna Háskóla Íslands 2023

Molecular and structural effect of Pontin and Reptin at the Neuromuscular Junction

Theodóra Björk Ægisdóttir, Zophonías Jónsson and Sigríður Rut Franzdóttir

Pontin and Reptin, proteins belonging to the AAA+ family of ATPases, are known to play key roles in many cellular processes in eukaryotes. The proteins are present in the nervous system of diverse species. In Drosophila melanogaster, our group has observed that the proteins affect the development of motor and sensory neurons, including the development of neuromuscular junctions (NMJ) (unpublished). When P/R are knocked down, the development of the neuromuscular junctions becomes abnormal. Loss of the proteins results in ectopic budding at the synapses forming so-called satellite boutons.
In this project the role/location of Pontin and Reptin in the development of the neuromuscular junction is studied. Drosophila melanogaster will be used as model species. The knock down phenotype will be compared between different motor neuron specific Gal4 driver lines to assess whether the lines can be used interchangeably. Then candidate modifier screening will be done on factor or processes known to be involved in regulating NMJ growth and structure. Lastly structural details of the knock down phenotype will be examined by combining super resolution microscopy and electron microscopy.
Studying this phenotype in detail at the molecular level should provide new insight into the cytoplasmic roles of Pontin and Reptin and could bring new light to the understanding of neuromuscular disorders.

 

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