Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
Trends Genet. 2022 Sep;38(9):972-984. doi: 10.1016/j.tig.2022.03.018. Epub 2022 Apr 25.
Advances in genome sequencing have enabled researchers and clinicians to probe vast numbers of human variants to distinguish pathogenic from benign variants. Model organisms have been crucial in variant assessment and in delineating the molecular mechanisms of some of the diseases caused by these variants. The fruit fly, Drosophila melanogaster, has played a valuable role in this endeavor, taking advantage of its genetic technologies and established biological knowledge. We highlight the utility of the fly in studying the function of genes associated with rare neurological diseases that have led to a better understanding of common disease mechanisms. We emphasize that shared themes emerge among disease mechanisms, including the importance of lipids, in two prominent neurodegenerative diseases: Alzheimer's disease (AD) and Parkinson's disease (PD).
基因组测序技术的进步使研究人员和临床医生能够深入研究大量的人类变异体，以区分致病性和良性变异体。模式生物在变异评估和阐明这些变异引起的一些疾病的分子机制方面发挥了至关重要的作用。果蝇，Drosophila melanogaster，在这方面发挥了宝贵的作用，利用其遗传技术和已建立的生物学知识。我们强调了在研究与罕见神经疾病相关的基因功能方面，苍蝇的实用性，这有助于更好地理解常见疾病机制。我们强调，疾病机制中出现了一些共同的主题，包括脂质在两种突出的神经退行性疾病（阿尔茨海默病和帕金森病）中的重要性。
