Academy of Finland
Funding decision
Applicant / Contact person Domingos de Almeida Garcia, Susana Maria
Organisation University of Helsinki
Project title RNA repeat toxicity in neuromuscular degeneration –mechanisms of cellular dysfunction
Decision No. 309173
Decision date 28.04.2017
Funding period 01.09.2017 - 31.08.2021
Funding 446 916
WebFOCUS Report
Project description
A number of degenerative disorders have been liked to a type of mutation – nucleotide expansions in the human genome. When these mutations are transcribed as RNAs, their accumulation in the cell causes cell damage and organismal dysfunction; these are associated to myotonic dystrophies, fragile X ataxia syndrome, amongst several other disorders. Yet the mechanisms associated with RNA toxicity by which cell damage occurs are poorly understood. This research proposal aims at taking a genetic approach to understanding the mechanisms underlying the cellular damage associated with toxic RNAs, as well as providing novel insights into the RNA metabolic pathways implicated in these pathogenic processes. For this purpose, reporter strains of the nematode Caenorhabditis elegans as well as mammalian cells will be used in dissecting how mutant RNAs cause cellular damage. This research is particularly relevant for human health as it offers potential targets for novel therapeutic approaches.