Pathological Insights into Neurodegenerative Diseases: Exploring Biomarkers and Diagnostic Innovations

Background: Neurodegenerative diseases, including Alzheimer's, Parkinson's, and Huntington's diseases, pose significant health challenges globally due to their chronic, progressive nature and severe impact on neurological function. Despite advances in symptom management, treatments remain insufficient in addressing underlying disease mechanisms. Molecular genetics has enabled critical insights into the molecular underpinnings of these diseases, with an emphasis on genetic mutations and biomarkers. Aim: This article explores the genetic factors and biomarkers associated with neurodegenerative diseases, focusing on the role of amyloid-beta, tau, and alpha-synuclein proteins. The aim is to examine how these proteins contribute to disease pathogenesis and how genetic research can lead to novel diagnostic and therapeutic innovations. Methods: The review integrates research findings from molecular genetics, clinical studies, and recent advancements in neurodegenerative disease research. It examines the genetic variations and mutations in key genes, such as APP, PSEN1, and PSEN2, and their effects on disease onset and progression. The article also discusses biomarkers and diagnostic approaches, including genetic screening and protein identification. Results: Key findings highlight the genetic underpinnings of Alzheimer's disease, particularly mutations in the APP, PSEN1, and PSEN2 genes. Variants like A673T and A673V show distinct effects on amyloid aggregation and neurodegeneration. Additionally, APOE's role in Alzheimer's pathogenesis is explored, emphasizing the differential effects of its isoforms on amyloid deposition and cognitive function. The article also underscores the importance of biomarkers in early diagnosis and personalized treatment strategies. Conclusion: The research affirms that neurodegenerative diseases are heavily influenced by genetic factors, with specific mutations playing a pivotal role in their pathogenesis. Advancements in molecular genetics and biomarkers hold promise for developing targeted diagnostic tools and therapies. However, more research is needed to fully understand the complexity of these diseases and their treatment.