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Organelles Disease and Its Consequences on Human Health


The faulty physiology of the cell’s organelles can result in a multitude of serious diseases. The development of technology and a better understanding of the human body have allowed scientists and medical professionals to examine the smallest elements of the body, such as organelles, and define their dysfunctions that lead to diseases. This paper will analyze the dysfunction of the endoplasmic reticulum and the consequences for human health.

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Organelles Disease

An organelle is a specific structure in a human body that performs various functions that allow the human being to function properly. According to the article “Organelles and Human Disease,” “defective biomolecules that impair function, or because it has been damaged by exposure to harmful substances such as chemicals, heavy metals, or oxygen radicals” (1). However, another way in which an organelle can cause dysfunction is the cell itself being damaged due to mutations, which halts the normal processes need to support the functioning of the body’s vital organs. Different organelles specialize in different tasks, such as transporting the vital elements or producing them. Although organelles are the smallest parts of the human body, their malfunctioning can cause severe issues with one’s health.

One of the dysfunctions that leads to a serious condition is the faulty endoplasmic reticulum. This organelle plays a vital role in the process of synthesizing lipids and proteins (Elzek et al. 1). One of the diseases that are the result of its malfunction is cystic fibrosis (CF). CF is a condition where sick mucus is accumulated in different organs, which may ultimately lead to the person’s death. The lungs and pancreas are the organs that are most commonly impacted by CF (Elzek et al. 1). Naturally, such accumulation affects the body’s physiology and its ability to function properly, causing a serious health impairment.

CF develops due to the proteins being stuck in the endoplasmic reticulum. This part of the organelles is a membranous sac where the proteins are synthesized (Habtezion et al. 1941). Hence, the synthesis of the protein is the main function of this little part of the human body. Therefore, the dysfunction linked to its vital element is a prominent issue leading to severe consequences for one’s health.

Due to the gene mutation, the normal CFTR protein is commonly synthesized in the endoplasmic reticulum. However, upon the mutation, CFTR is unable to leave this part of the organelle and proceed to move towards the Gogi body, which causes an accumulation. As a result of the mutation, the incorrect proteins are being included in the CFTR molecule, and this can decrease the quality of the cell’s surface or affect the overall quality of this protein.

Most commonly, the mutation occurs due to the loss of the amino acid coded under the letter “F” in the abbreviation of this protein. Habtezion et al. explain that the mechanism behind the CFTR leaving this part of the organelle is linked to coat complex II, designed to recognize when the synthesis of this protein has been finished (1941). However, upon CFTR’s s mutation, this process is not recognized, and therefore, the CFTR cannot leave the endoplasmic reticulum. Hence, this disease is linked to the mutation of the DNA and the inability of the organelle to recognize the new proteins that arise as a result of it.

The diseases of the organelles such as CF are complex since they are linked to genetic mutations or the malfunctioning of the organelle caused by its exposure to harmful materials. The specific genetic error that causes CF is the mutation of the CFTR protein, which cannot be reversed or cured (Peixoto et al., 113906). Currently, there are some medications that help people with CF control their symptoms and halt the process of the disease development. However, this condition cannot be fully treated.

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The anatomical changes that occur are the accumulation and build-up of the protein, which can be seen as mucus in the organs of the individual. Naturally, this build-up leads to the vital organs not being able to function properly. Since this is a genetic and inherited disease, as Peixoto et al. note, there is no cure or a potential remedy to address the problem (113906). Ultimately, this disease causes severe malfunctioning of the vital organs and may lead to the person’s death. Peixoto et al. state that the general life expectancy of people with CF has improved within recent years, and currently, it is estimated that a patient with CF can live into their mid-40s (113906). Considering these numbers, one can assume that CF severely affects the health of the person who has it and substantially decreases their life expectancy.


In summary, this paper discusses the disease that arises from the dysfunction of the endoplasmic reticulum, which is CF. This condition is a result of the mucus build-up within the person’s vital organs. Since CF is a result of a genetic mutation, this condition is severe and endangers the person’s life. Still, CF is an example of how a malfunction of an organelle due to a genetic mutation can result in a serious health impairment.

Works Cited

Elzek, Mohamed A.W. et al. “Localization of Organelle Proteins By Isotope Tagging: Current Status And Potential Applications in Drug Discovery Research.” Drug Discovery Today: Technologies, vol. 1, pp. 1-10.

Habtezion, Aida et al. “Acute Pancreatitis: A Multifaceted Set of Organelle And Cellular Interactions”. Gastroenterology, vol. 156, no. 7, 2019, pp. 1941-1950.

Peixoto, Estanislao et al. “The Primary Cilium: Its Role As A Tumor Suppressor Organelle.” Biochemical Pharmacology, vol. 175, 2020, p. 113906.

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