运动神经元
神经科学
生物
神经元
基础(线性代数)
计算生物学
生物技术
数学
几何学
脊髓
作者
Apostolos Antonakoudis,Stella Aikaterini Kyriakoudi,Despoina Chatzi,Iasonas Dermitzakis,Sofia Gargani,Soultana Meditskou,Maria Eleni Μanthou,Paschalis Theotokis
摘要
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 SOD1, TARDBP, FUS, and C9orf72, 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.
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