MOLECULAR MECHANISMS OF GENETIC DISORDERS IN THE HUMAN NERVOUS SYSTEM

• Norboyeva Madinabonu

  Gulistan state university 12-24 group 2nd year student norboyevamadina2005@gmail.com

  Author

The human nervous system is one of the most complex biological structures known, orchestrating the body’s cognitive, sensory, and motor functions. Genetic disorders affecting this system often arise from mutations, chromosomal rearrangements, or epigenetic abnormalities that disrupt neuronal signaling, neurodevelopment, or synaptic plasticity. Recent advances in genomics, transcriptomics, and neuroinformatics have uncovered crucial molecular mechanisms underlying neurogenetic disorders such as Huntington’s disease, amyotrophic lateral sclerosis (ALS), fragile X syndrome, and various forms of hereditary neuropathies. This article provides an in-depth analysis of the genetic and molecular pathways involved in neurological disorders, emphasizing recent discoveries in gene expression regulation, protein misfolding, mitochondrial dysfunction, and neuroinflammation. The study further explores diagnostic and therapeutic implications of emerging molecular findings and proposes future directions for precision medicine in neurogenetics.

Kandel, E. R., Schwartz, J. H., & Jessell, T. M. (2021). Principles of Neural Science. McGraw-Hill.

Geschwind, D. H., & State, M. W. (2015). Gene hunting in autism spectrum disorder. Nature, 521(7552), 340–348.

Traynor, B. J., & Singleton, A. B. (2019). Genetic mechanisms of neurodegeneration. Nature Reviews Neuroscience, 20(8), 515–528.

Jankovic, J. (2020). Pathophysiology and clinical assessment of movement disorders. The Lancet Neurology, 19(5), 375–388.

Labbadia, J., & Morimoto, R. I. (2015). The biology of proteostasis in aging and disease. Annual Review of Biochemistry, 84, 435–464.

Zoghbi, H. Y., & Bear, M. F. (2012). Synaptic dysfunction in neurodevelopmental disorders. Science, 337(6093), 64–69.

Kim, J., & Tanzi, R. E. (2015). The genetics of Alzheimer’s disease. Neuron, 85(6), 924–939.

Van Es, M. A., et al. (2017). Genetic and environmental risk factors in ALS. The Lancet Neurology, 16(10), 980–987.

Wallace, D. C. (2018). Mitochondrial genetic medicine. Nature Genetics, 50(12), 1642–1649.

Bredesen, D. E. (2020). Metabolic and molecular mechanisms of neurodegenerative disease. Nature Aging, 1(2), 124–138.

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