Assessment Description:
Lysosomes and mitochondria have important functions in the cell. Research and pick a lysosomal storage disease or a mitochondrial disorder, and summarize what happens.
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SOLUTION to BIO-201: Human Anatomy and Physiology I - Topic 2 DQ 1.
SAMPLE 1
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Lysosomal storage diseases and mitochondrial disorders are large classes of primary genetic diseases that affect cellular function. An example of a disease caused by the accumulation of lipids in lysosomes is Tay-Sachs disease. Tay-Sachs is an inherited disease which results from the absence of an enzyme known as hexosaminidase A (Hex-A) that helps in degrading a fatty material known as GM2 ganglioside found in neural cells. According to Bertani et al. (2021), the lack or deficiency of this enzyme results in the presence of Hex-A which causes excessive buildup of GM2 ganglioside in neurons’ lysosomes, provoking gradual neuronal degeneration. This build up interferes with normal metabolism causing symptoms like muscle weakness, impaired movements, seizures and finally, deepening neurological impairment. Tay-Sachs is a disease that has its initial symptoms arising at infancy normally soon after six months of age where the child gradually declines in their mental and physical development. However, there is no known treatment for the disease and individuals suffering from Tay-Sachs usually die from it by early childhood.
On the other hand, there are mitochondrial diseases including Leigh syndrome, which involves the mitochondria, which are called the cell’s furnace. Leigh syndrome is a severe encephalopathy with manifestations of neurological dysfunction due to pathogenic variants in mitochondrial DNA or nuclear genes encoding mitochondrial proteins. They affect the normal functioning of mitochondria, thus reducing the production of ATP which is a vital energy source in the cell and resulting in multiple cellular abnormalities. McCormick et al. (2023) state that the signs of Leigh syndrome might be observed as soon as infancy or early childhood and may preliminarily consist of hypotonia, developmental dysfunction, seizures, and breathing problems. Neurological manifestations are due to cellular energy failure in the cells of the brain especially in motor and respiratory areas. Similar to Tay-Sachs, Leigh syndrome is also a degenerative disorder and the majority of children with the condition do not live past a few years after developing symptoms.
References
Bertani, V., Prioni, S., Di Lecce, R., Gazza, F., Ragionieri, L., Merialdi, G., ... & Cantoni, A. M. (2021). A pathogenic HEXA missense variant in wild boars with Tay-Sachs disease. Molecular Genetics and Metabolism, 133(3), 297-306. https://doi.org/10.1016/j.ymgme.2021.05.001
McCormick, E. M., Keller, K., Taylor, J. P., Coffey, A. J., Shen, L., Krotoski, D., ... & Rahman, S. (2023). Expert panel curation of 113 primary mitochondrial disease genes for the Leigh syndrome spectrum. Annals of Neurology, 94(4), 696-712. https://doi.org/10.1002/ana.26716