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SOLUTION to BIO-201: Human Anatomy and Physiology I - Topic 4 DQ 1.
SAMPLE 1
Hello everyone,
Question: Compare and contrast the cellular mechanisms and clinical manifestations of Gaucher disease and MELAS syndrome. How do these conditions affect cellular function, and what are the primary treatment options for each disease?
Answer: Gaucher disease is a lysosomal storage disease due to a deficiency in the enzyme glucocerebrosidase. Roh et al. (2022) state that this enzyme facilitates lysosomal degradation of a fatty substance known as glucocerebroside. When the enzyme is absent or deficient, globotriaosylceramide accumulates in macrophages forming Gaucher cells. These cells also gather in the liver, the spleen, the bone marrow, and various other tissues, interfering with regular cell processes and causing numerous symptoms. The primary manifestations of Gaucher disease are hepatosplenomegaly, anemia, thrombocytopenia, bone pain, and skeletal abnormalities. The most common treatments include enzyme replacement therapy (ERT) using imiglucerase or substrate reduction therapy (SRT) with eliglustat which allows for reduction of glucocerebroside buildup within cells.
MELAS syndrome is a mitochondrial disorder which results from the mutations in mitochondrial DNA and it compromises the normal function of mitochondria hindering cellular energy production. According to Lin et al. (2022), this occurs in tissues that have high energy turnover such as the neuromuscular tissues. MELAS is characterized clinically by recurrent stroke-like episodes, pyramidal weakness, seizures, elevated serum lactate, migraine and declining EEG or cognitive function. Notably, its manifestation is common in childhood or early adulthood. MELAS syndrome has no cure; however, treatment aims at alleviating symptoms, and patients are sometimes given CoQ10 and L-arginine supplements to improve the dysfunction of mitochondria and decrease the occurrence of the stroke-like episodes.
Generally, Gaucher disease and MELAS syndrome – affect cellular functions although in different ways. Gaucher’s disease is characterized by the deposition of molecules referred to as glucocerebroside in the lysosomes due to deficiency of enzymes and this results in tissue injury and organ malfunction. On the other hand, MELAS is caused by mutations in mitochondrial DNA affecting cellular respiration and causing neurological and muscular effects. Management of Gaucher disease comprises enzyme replacement and substrate reduction, and MELAS syndrome entails mainly the alleviation of symptoms and mitochondrial support.
References
Lin, D. S., Huang, Y. W., Ho, C. S., Huang, T. S., Lee, T. H., Wu, T. Y., ... & Wang, T. J. (2022). Impact of mitochondrial A3243G heteroplasmy on mitochondrial bioenergetics and dynamics of directly reprogrammed MELAS neurons. Cells, 12(1), 15. https://doi.org/10.3390/cells12010015
Roh, J., Subramanian, S., Weinreb, N. J., & Kartha, R. V. (2022). Gaucher disease–more than just a rare lipid storage disease. Journal of Molecular Medicine, 100(4), 499-518. https://doi.org/10.1007/s00109-021-02174-z