Xylorian Presentation - Rohit J 1B

START

By: Rohit J - 1B

Xylorian Case Study

Patient Case Study

A 23 year old Xylorian Male patient walks into the Universal Emergency Room complaining of rapid muscle atrophy and severe breathing issues. Additionally, the patient said his entire body was gradually getting weaker and he had an increased difficulty in walking. Therefore, he could not exercise and was rendered virtually immobile. His breathing issues included dyspnea and frequent respiratory infections. The Xylorian patient also reported rapid weight loss over the past few months and overall feeling tired throughout the day, with headaches in the morning. Upon a stethescope check, the patient was shown to have arrhythmia.

Each of the organelles in a cell has a specific task. Together, the organelles work to help the cell function properly. Even if one organelle does not function properly, the entire cell will malfunction as it will not be fully working.

-Ribsomes-Genetic Material-Cytoplasm-Plasma membrane

Both

Eukaryotic Vs Prokaryotic Cells

-Unicellular Organisms-Simple organisms-Examples fall under bacteria and archae domains-No nucelus-Circular DNA-Reproduce asexually

Prokaryotic Cells

-Multicellular Organisms-Complex organisms-Examples include Xylorians, humans, animals, and plants-Contain nucleusContain linear DNA-Membrane-bound organelles-Reproduce sexually and asexually

Eukaryotic Cells

START

These are the type of cells that Xylorians have as they are multi-cellular organisms. Click on each cell component to learn more about its function!

Eukaryotic Cells

Prokaryotic organisms are single-cellulared. Organisms that have a prokaryotic cell fall under the bacteria and archae domains . Click on each cell component to learn more about its function!

Prokaryotic Cells

- The membrane-bound organelles in eukaryotic cells are the nucleus, mitochondria, endoplasmic reticulum, golgi apparatus, vacuoles, and lysosomes. - These membrane-bound organelles allow for compartmentalization as they separate each organelle with its own specialized environment in which unique biochemical processes can take place. - If the cells were not compartmentalized, there would be a loss of efficiency as the processes would happen in the same space, leading to a competition of organelles for resources. Furthermore, specialized functions of the cell would be lost because the organlles’ unique environments would be lost. Lastly, enzymes would freely interact with organelles, causing cellular damage and stress. Overall, there would be severe negative consequences for the entire cell if there was no compartmentalization.-Because of the patient's unique malfuction, the mitochondria is most definitely affected as it disrupts autophagy, which shapes mitochondrial health. Additionally, the releasing of contents by the malfunctioned organelle in the patient can potentiallly damage the nucelus or DNA.

Compartmentalization

High Middle Low

Surface Area to Volume Ratio

A larger surface area to volume ratio equates to better cell efficiency than a smaller ratio. -One reason is because a larger SA:V means that cells can better exchange nutrients within their environment. This allows cells to absorb nutrients more quickly efficiently, which is essential for maintaining cellular functions. -Addtionally, having a high ratio allows a cell to expel waste more efficiently. If a cell does not have the proper ratio, it may struggle in removing waste properly, which can lead to build-ups and cellular malfunctions-Furthermore, as cells produce thermal energy when conducting chemical functions, the thermal energy needs to go outside the cell. Having a high SA:V ratio lets the thermal energy diffusion happen faster. Overall, a high Surface Area to Volume Ratio is benefical for the cell as it allows for diffusion of nutrients and the expelling of waste and energy to happen quicker, allowing the cell to be healthier.Since you are xylorian, you have the beneficial involuntary adaptation of being able to increase your cell surface area whenever the body detects that the ratio is too low and chemical functions are slowing down.

Lysosomes: The proteins function as enzymes to help in digestion and recycle cell partsCell Membrane: Some proteins become a part of the cell membrane while others are secreted from the cell, releasing their contents outside *The endomembrane pathway is important to regulate cell function and maintain homeostasis as the proteins are used throughout the whole cell. If this process did not take place, it would instantly lead to cell degradation

Final Destination Functions

The vesicles carry the final proteins to their final destination, fusing with their target membranes to do so.

Delivery

Endomembrane Pathway*

The properly folded proteins are transported inside vesicles to the Golgi Apparatus

Transportation

Inside the golgi apparatus, the proteins undergo further modifications are packaged for their individual destinations (lysosomes, cell membrane, secretion)

Processing

The ribosomes on the Rough Endoplasmic Reticulum synthesize proteins

Protein Synthesis

The synthesized protein is moved into the Rough Endoplasmic Reticulum, where it is folded into the correct shape

Relocation

Any disruptions in the endomembrane pathway process can lead to this. For instance, if the transportation of enzymes from the endoplasmic reticulum to the golgi apparatus is disrupted, then there will be an insufficient amount of enzyme will reach the lysosome, leading to a build up of glycogen as there will not be enough enzymes to digest it. Furthermore, any hindrance on the vescile's budding and fusion process can lead to enzymes not being properly taken to lysosomes.

In this unique disease, the Lysosome organelle is malfunctioning. In the patient's case of Pompe Disease, there is a deficiency of the enzyme acid alpha-glucosidase, which is found in lysosomes. Without this enzyme, glycogen cannot be broken down into glucose. The excess accumulation of glycogen, due to the enzyme deficiency not being able to break it down, builds up in the lysosomes and causes them to enlargen and and can cause cellular stress and swelling. With glucose not being available, cells cannot access it for energy, leading to degradation. Additionally, this all adds up and leads to the symptoms that the patient experienced.

Based on the observed symptoms of muscle atrophy, overall weakness, arrythmia, and respiratory problems, it can be easily discernable that the Xylorian patient has acquired Pompe disease, a detrimental gene mutation most likely inherited from his half-human half-xylorian mom. This is a rare condition, affecting about 1 in 40,000 people in the United States. The case that the 23 year-old Xylorian patient prestented with is adult-onset, as most cases are infantile.

Diagnosing the Malfunction

Currently, there is no definitive cure for Pompe Disease. However, there are therapies to slow the progression. One example is enzyme replacement therapy, which can replace the deficient enzyme. An IV infusion can be implanted into the Xylorian patient to replace his deficient acid alpha-glucosidase enzyme. Consequenly, his glycogen will be broken down efficiently into glucose and it will be used effectively within the cell. This therapy is highly recommended for the Xylorian patient as it is the only way to slow the progression of his rapid onset of symptoms. Although the average cost of the therapy is between $40K-$60K, which special Xylorian health insurance you can get a large discount.If the Xylorian government could sponsor our human research team, we can potentially develop a cure for the Xylorian patient. This would be a form of gene therapy, where we would implant a working copy of the GAA gene, which encodes the acid alpha-glucosidase enzyme, into the patient. This would restore the functionality of the enzyme in the muscle and throughout the entire body.

Solutions

I hope the xylorian patient is cured

Thank you!

It controls what leaves and enters the cell. Additionally, it is where metabolic reactions take place

Plasma Membrane

They store water and nutrients in plants. This helps plants maintain their structure. In animals, they take in and also get rid of waste products.

Vacuole

A unique feature of some eukaryotic cells that is present in organisms such as Giardia, trichomonads, and Xylorians! It helps the cell move.

Flagella

Just like in eukaryotic cells, the ribosomes help to produce and synthesize proteins.

Ribosomes

The cell wall helps to maintain the cell's shape and protect the interior organelles. Additionally, it keeps the cell from bursting when it intakes water.

Cell Wall

It generates metabolic energy and ATP by breaking down sugars. This energy is used by the cell to complete all of its biochemical reactions. Commonly, the Mitochondria is known as the "Powerhouse of the Cell"

Mitochondria

They contain Ribosomal RNA (rRNA) and protein. They synthesis proteins according to the mRNA sequence.

Ribosomes

It controls the activity and reproduction of the prokaryotic cell. It stores the genetic information. Becuase prokaryotic cells do not have a nucelus, the DNA is free-floating.

Nucleoid DNA

It holds all the organelles and prevents them from harm.

Cytoplasm

It synthesizes and exports proteins. Additionally, it aids in the transportation of the lipids in the membrane. The two types are Rough ER and Smooth ER. Rough ER has ribosomes on it and synthesizes proteins. Smooth ER does not have ribosomes on it and synthesizes lipids

Endoplasmic Reticulum

Pili have a small role in movement, but they are more centered to adherence to surfaces, which facilitates infections. Additionally, they aid in DNA transfer

Pili

The cytoplasm holds all the organelles.

Cytoplasm

This is only part of plant cells. Plant cells have both cell walls and cell membranes, while animal cells only have cell membranes. A cell wall provides major structural support and protection for plants

Cell Wall

Aids in cell movement. It is also found in some eukaryotic cells

Flagellum

They are the cell's waste disposal system. They break down proteins, lipids, and carbohydrates through enzymes that are later expelled out of the cell. Additionally, lysosomes repair and recycle cell parts.

Lysosome

They deliver packages form the Golgi Apparatus to destinations within or outside the cell. They also absorb and destroy toxic materials and recycle waste materials

Vesicles

Chloroplasts are only in plant cells. They transfrom light energy into chemical energy through a process called photosynthesis, which helps provide energy for the cell

Chloroplast

It stores all of the cell's genetic information and is in control of all the functions. Commonly, it is known as the "Command Center"

Nucleus

It allows for the importation of exportation and nutrients. Additionally, it keeps unwanted bacteria out of the cell. The cell membranes holds all the cell's organelles and provide some structural support for the cell.

Cell Membrane

The capsule helps prokaryotic cells adhere to each other and onto various surfaces on their environment. It acts as a barrier and keeps the inner contents of the cell form drying out.

Capsule

Transporting, sorting, and modification of proteins and lipids. It does this to secrete or delivery to various parts of the cell. The golgi apparatus creates vesicles to modified products.

Golgi Apparatus

It produces and assembles the cell's ribosomes

Nucleolus