Antonakoudis Apostolos, Kyriakoudi Stella Aikaterini, Chatzi Despoina, Dermitzakis Iasonas, Gargani Sofia, Meditskou Soultana, Manthou Maria Eleni, Theotokis Paschalis
Department of Histology-Embryology, School of Medicine, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece.
Int J Mol Sci. 2025 May 20;26(10):4904. doi: 10.3390/ijms26104904.
Motor neuron diseases (MNDs) are a heterogeneous group of neurodegenerative disorders characterized by the progressive loss of motor neurons, resulting in debilitating physical decline. Advances in genetics have revolutionized the understanding of MNDs, elucidating critical genes such as , , , and , which are implicated in their pathogenesis. Despite these breakthroughs, significant gaps persist in understanding the interplay between genetic and environmental factors, the role of rare variants, and epigenetic contributions. This review synthesizes current knowledge on the genetic landscape of MNDs, highlights challenges in linking genotype to phenotype, and discusses the promise of precision medicine approaches. Emphasis is placed on emerging strategies, such as gene therapy and targeted molecular interventions, offering hope for personalized treatments. Addressing these challenges is imperative to harness the full potential of genomics for improving outcomes in MNDs.
运动神经元病（MNDs）是一组异质性神经退行性疾病，其特征是运动神经元进行性丧失，导致身体功能逐渐衰退。遗传学的进展彻底改变了对MNDs的认识，阐明了诸如 、 、 和 等关键基因，这些基因与疾病的发病机制有关。尽管取得了这些突破，但在理解遗传和环境因素之间的相互作用、罕见变异的作用以及表观遗传学贡献方面仍存在重大差距。本综述综合了目前关于MNDs遗传图谱的知识，强调了将基因型与表型联系起来的挑战，并讨论了精准医学方法的前景。重点关注新兴策略，如基因治疗和靶向分子干预，为个性化治疗带来了希望。应对这些挑战对于充分发挥基因组学在改善MNDs治疗效果方面的潜力至关重要。
