Reply to the post with 2 references Alterations in Cellular Processes: ALS Case Study Amyotrophic

Reply to the post with 2 references Alterations in Cellular Processes: ALS Case Study Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative condition that leads to the gradual loss of motor neurons, resulting in muscle deterioration (Huang, et al., 2024). “It is generally characterized by progressive paralysis starting at the limbs ultimately leading to death caused by respiratory failure” (Bennett, et al., 2019). Maria’s symptoms, including progressive muscle weakness, fasciculations, dysphagia, and recurrent respiratory infections, align with ALS. Her genetic testing confirms a mutation in the superoxide dismutase 1 (SOD1) gene, which is linked to familial ALS (FALS). How Do SOD1 Mutations Contribute to ALS Progression? The primary genes associated with the disease, responsible for nearly half of familial ALS cases and about 6% of sporadic cases worldwide, include SOD1, TARDBP, FUS, and C9orf72 (Ruffo, Perrone, & Conforti, 2022). The SOD1 gene, located on chromosome 21, produces an enzyme called superoxide dismutase 1, which helps protect cells from harmful reactive oxygen species (Benatar, Robertson, & Andersen, 2025). Mutations in this gene cause the enzyme to misfold and lose its protective function, leading to nerve cell damage and ALS progression. SOD1 mutations cause neurodegeneration through multiple mechanisms: Oxidative Stress: Mutant SOD1 loses its protective function, leading to excessive ROS accumulation and oxidative damage (Bennett, et al., 2019). Mitochondrial Dysfunction: Abnormal SOD1 disrupts mitochondrial energy production, leading to neuronal death. “Pathogenic variants show disruptions in protein folding, and misfolding of these species has been identified as key contributors to ALS pathogenesis” (Huang, et al., 2024). Mutant SOD1 forms toxic aggregates, disrupting proteostasis and causing endoplasmic reticulum (ER) stress. Excitotoxicity: Impaired glutamate clearance leads to excessive calcium influx, resulting in neuronal apoptosis (Bennett, et al., 2019)(Benatar, Robertson, & Andersen, 2025) These translate into neuroinflammation mechanisms, defective RNA processing, failure of cellular waste clearance, and cytoskeletal disruption. As motor neurons deteriorate, muscle control is progressively lost, leading to the symptoms Maria experiences (fasciculations, dysphagia, frequent respiratory infections, etc.). Recommended Additional Tests for ALS Diagnosis Blood tests help assess the extent of nerve damage and disease progression. Key findings include elevated neurofilament light chain (NfL) levels, increased creatine kinase (CK), altered inflammatory markers, and electrolyte/metabolic changes (Le, et al. 2019). Other recommended tests are (Le, et al. 2019): Electromyography (EMG) to assess electrical activity in muscles to detect nerve degeneration. Nerve Conduction Studies (NCS) to measure the speed and strength of electrical impulses in nerves. MRI of the brain and spine to rule out other conditions Lumbar puncture to analyze cerebrospinal fluid for inflammation or infections. Ethical Considerations in Genetic ALS Diagnosis Given the hereditary nature of ALS, genetic counseling is essential for Maria and her family. She may need to consider reproductive decisions, such as preimplantation genetic testing (PGT), to prevent passing on the mutation. Informing at-risk relatives about genetic testing and early interventions is also crucial. In addition to this, Maria must address the psychosocial impact of her diagnosis, including concerns about disease progression, quality of life, and future care planning. References Benatar, M., Robertson, J., & Andersen, P. (2025). Amyotrophic lateral sclerosis caused by SOD1 variants: from genetic discovery to disease prevention. The Lancet Neurology, 24 (1) 77-86. 10.1016/S1474-4422(24)00479-4. Bennett, S. A., Tanaz, R., Cobos, S. N., & Torrente, M. P. (2019). Epigenetics in amyotrophic lateral sclerosis: a role for histone post-translational modifications in neurodegenerative disease. Translational Research: The Journal of Laboratory & Clinical Medicine, 204, 19-30. https://doi.org/10.1016/j.trsl.2018.10.002. Huang, M., Lui, Y. U., Yao, X., Qin, D., & Su, h. (2024). Variability in SOD1-associated amyotrophic lateral sclerosis: geographic patterns, clinical heterogeneity, molecular alterations, and therapeutic implications. Translational Neurodegeneration, https://doi.org/10.1186/s40035-024-00416-x. Le, T., Bhushan, V., Deol, M., & Reyes, G. (2019). First Aid for the USMLE Step 2 CK 10ed. New York, NY: McGraw-Hill Education. Ruffo, P., Perrone, B., & Conforti, F. L. (2022). SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines. Genes, 13(3), 537. https://doi.org/10.3390/genes13030537.

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