Shademan Behrouz, Biray Avci Cigir, Nikanfar Masoud, Nourazarian Alireza
Department of Medical Biology, Medical Faculty, Ege University, 35100, Bornova, Izmir, Turkey.
Department of Neurology, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
Neuromolecular Med. 2021 Jun;23(2):225-235. doi: 10.1007/s12017-020-08601-7. Epub 2020 May 12.
Genetic factors (gene mutations) lead to various rare and prevalent neurological diseases. Identification of underlying mutations in neurodegenerative diseases is of paramount importance due to the heterogeneous nature of the genome and different clinical manifestations. An early and accurate molecular diagnosis are cardinal for neurodegenerative patients to undergo proper therapeutic regimens. The next-generation sequencing (NGS) method examines up to millions of sequences at a time. As a result, the rare molecular diagnoses, previously presented with "unknown causes", are now possible in a short time. This method generates a large amount of data that can be utilized in patient management. Since each person has a unique genome, the NGS has transformed diagnostic and therapeutic strategies into sequencing and individual genomic mapping. However, this method has disadvantages like other diagnostic methods. Therefore, in this review, we aimed to briefly summarize the NGS method and correlated studies to unravel the genetic causes of neurodegenerative diseases including Alzheimer's disease, Parkinson's disease, epilepsy, and MS. Finally, we discuss the NGS challenges and opportunities in neurodegenerative diseases.
遗传因素（基因突变）会导致各种罕见和常见的神经疾病。由于基因组的异质性和不同的临床表现，确定神经退行性疾病的潜在突变至关重要。对于神经退行性疾病患者而言，早期准确的分子诊断是接受适当治疗方案的关键。新一代测序（NGS）方法一次可检测多达数百万个序列。因此，以前被诊断为“病因不明”的罕见分子诊断现在可以在短时间内实现。该方法产生大量可用于患者管理的数据。由于每个人都有独特的基因组，NGS已将诊断和治疗策略转变为测序和个体基因组图谱绘制。然而，该方法与其他诊断方法一样存在缺点。因此，在本综述中，我们旨在简要总结NGS方法及相关研究，以揭示包括阿尔茨海默病、帕金森病、癫痫和多发性硬化症在内的神经退行性疾病的遗传病因。最后，我们讨论了NGS在神经退行性疾病中的挑战与机遇。
