Behavior in a Drosophila model of fragile X.
This chapter will briefly tie together a captivating string of scientific discoveries that began in the 1800s and catapulted us into the current state of the field where trials are under way in humans that have arisen directly from the discoveries made in model organisms such as Drosophila (fruit flies) and mice. The hope is that research efforts in the field of fragile X currently represent a roadmap that demonstrates the utility of identifying a mutant gene responsible for human disease, tracking down the molecular underpinnings of pathogenic phenotypes, and utilizing model organisms to identify and validate potential pharmacologic targets for testing in afflicted humans. Indeed, in fragile X this roadmap has already yielded successful trials in humans (J. Med. Genetic 46(4) 266-271; Jacquemont et al. Sci Transl Med 3(64):64ra61), although the work in studying these interventions in humans is just getting underway as the work in model organisms continues to generate new potential therapeutic targets.
Department of Psychiatry, University of Pennsylvania School of Medicine, Philadelphia, PA, USA. smjmcbride@gmail.com
Sean M
SM
McBride
Aaron J
AJ
Bell
Thomas A
TA
Jongens
D000818:Animals; D001522:Behavior, Animal / Q000502:physiology*; D002940:Circadian Rhythm / Q000502:physiology; D003071:Cognition / Q000502:physiology; D004195:Disease Models, Animal; D004330:Drosophila / Q000033:anatomy & histology / Q000502:physiology*; D029721:Drosophila Proteins / Q000235:genetics / Q000378:metabolism; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics / Q000378:metabolism; D005600:Fragile X Syndrome / Q000503:physiopathology*; D049672:History, 19th Century; D049673:History, 20th Century; D049674:History, 21st Century; D006801:Humans; D007858:Learning / Q000502:physiology; D008568:Memory / Q000502:physiology; D010641:Phenotype; D017470:Receptors, Glutamate / Q000235:genetics / Q000378:metabolism; D015398:Signal Transduction; D012919:Social Behavior
D029721:Drosophila Proteins; D051860:Fragile X Messenger Ribonucleoprotein 1; D017470:Receptors, Glutamate; C467328:FMR1 protein, Drosophila