The Drosophila fruit fly as an in vivo model for human neurodegenerative diseases due to trinucleotide repeats, by Véronique Monnier

Summary The Drosophila fruit fly as an in vivo model for human neurodegenerative diseases due to trinucleotide repeats
Trinucleotide repeat disorders account for more than twenty rare and severe inherited neurological diseases. The repeats can be located in the coding region of the affected gene, as is the case for polyglutamine diseases such as Huntington disease and several spinocerebellar ataxias, or in the non-coding part of the gene like in Friedreich ataxia (FA). Drosophila models have emerged as an attractive complementary approach to mammalian models to study these diseases. Their short lifespan and powerful genetic tools allow fast in vivo studies to screen for genetic modifiers and protective compounds.  Our team has developed several models of these diseases. Our contribution to the identification of physiopathological mechanisms and the search for therapeutic strategies will be illustrated here mainly through our models of FA. This recessive disease is due to GAA expansions in the first intron of the gene encoding frataxin, an evolutionary conserved mitochondrial protein involved in the biosynthesis of iron-sulfur clusters. Our models recapitulate the major hallmarks of the disease and allowed us to identify drugs with protective effects.

Short Biography
Véronique Monnier is an associate professor at University Paris Cité and is leading the team “Degenerative Processes, Stress and Aging” at the unit of functional and Adaptative Biology (BFA, Université Paris Cité, UMR8251).  After veterinary studies in the ENVA school of Maisons-Alfort, she performed a PhD on the Hedgehog signaling pathway at the Jacques Monod Institute under the direction of Anne Plessis and Claudie Lamour-Isnard. She joined the team of Hervé Tricoire in 1999 and since then she is working on aging and degenerative diseases using the Drosophila melanogaster fly as a model. She noticeably developed an in vivo cardiac imaging system in flies to study cardiac aging and modelize human cardiomyopathies. Her research projects on neurodegenerative diseases mainly focuses on trinucleotide diseases. After being involved in several European networks on polyglutamine diseases, she developed Drosophila models of Friedreich’s Ataxia that are currently used to study physiopathological mechanisms and to identify therapeutic targets through genetic and pharmacological screenings.