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Abstract：
Drosophila melanogaster has been for over a century the model of choice of several neurobiologists to decipher the formation and development of the nervous system as well as to mirror the pathophysiological conditions of many human neurodegenerative diseases. The rare disease Friedreich’s ataxia (FRDA) is not an exception. Since the isolation of the responsible gene more than two decades ago, the analysis of the fly orthologue has proven to be an excellent avenue to understand the development and progression of the disease, to unravel pivotal mechanisms underpinning the pathology and to identify genes and molecules that might well be either disease biomarkers or promising targets for therapeutic interventions. In this review, we aim to summarize the collection of findings provided by the Drosophila models but also to go one step beyond and propose the implications of these discoveries for the study and cure of this disorder. We will present the physiological, cellular and molecular phenotypes described in the fly, highlighting those that have given insight into the pathology and we will show how the ability of Drosophila to perform genetic and pharmacological screens has provided valuable information that is not easily within reach of other cellular or mammalian models.
摘要：
一个多世纪以来，果蝇一直是几种神经生物学家选择的模型，以破译神经系统的形成和发展，并反映许多人类神经退行性疾病的病理生理状况。罕见疾病Friedreich共济失调（FRDA）也不例外。自从二十多年前分离出负责任的基因以来，对苍蝇直系同源物的分析已被证明是了解疾病发展和进展的绝佳途径，解开病理基础的关键机制，并鉴定可能是疾病生物标志物或有希望的治疗干预目标的基因和分子。在这次审查中,我们的目标是总结果蝇模型提供的研究结果，但也要超越一步，并提出这些发现对这种疾病的研究和治疗的意义。我们将呈现生理，飞行中描述的细胞和分子表型，强调那些对病理学有洞察力的人，我们将展示果蝇进行遗传和药理筛选的能力如何提供了有价值的信息，这些信息不容易在其他细胞或哺乳动物模型的范围内。
