BIOS 251 Week 3 Case Study Assignment, Assignments of Biology

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BIO251 WK 3 CASE STUDY Assignment

Grace C. Clay

Chamberlain University

Instructor: Haneen Salhieh

Date: May 23, 2024

BIOS251 WK 3 CASE STUDY

Introduction recap:

The cell is the structural & and functional unit of living organisms capable of carrying out life processes. The normal functions of an organism, as a whole, are the outcome of the activities & and interactions of cells and their organelles. An organelle may be defined as a structure made of molecules organized in such a way that it can perform a specific function. Think of organelles as “tiny organs” that allow each cell to live. Even though organelles cannot survive outside the cell, without organelles, the cell itself could not survive either. Examples of organelles are the nucleus, endoplasmic reticulum, Golgi apparatus, lysosomes, and mitochondria. Scenario/Summary In this case study, we look at the clinical implications of what happens to a client when one of a cell's "tiny organ" organelles fails to function properly. In particular, we will use a lysosomal storage disease to demonstrate this. Mrs. Anderson brings her 9-month-old daughter, Emily, to the pediatric clinic for a routine check-up. During the examination, the nurse practitioner notices that Emily is not reaching typical developmental milestones. Mrs. Anderson mentions that she has noticed a loss of formerly acquired skills, such as the ability to track objects with her eyes and respond to her name.

portion. GM2 gangliosides are complex glycosphingolipids that are an integral part of cell membranes, particularly in nervous tissue.

• Cause: Hexosaminidase A gene (HEXA) gene mutation.
• Consequence: Hexosaminidase A enzyme (HEX A) is required to degrade GM ganglioside; without the HEX A enzyme, GM2 ganglioside accumulates in the lysosomes of brain and nerve cells.
• Inheritance pattern: autosomal recessive Deliverables Please address the following questions in complete sentences. I am going to address each of the questions based on the case study provided:

1. What is the normal function of Lysosomes? ANS: Normal Function of Lysosomes: Lysosomes are membrane-bound organelles within cells. Their primary function is to break down and digest various cellular components, including waste materials, damaged organelles, and foreign substances. They contain enzymes (such as proteases, lipases, and nucleases) that degrade macromolecules like proteins, lipids, nucleic acids, and carbohydrates. Lysosomes also play a role in autophagy (cellular self-degradation), phagocytosis (engulfing and digesting foreign particles), and maintaining cellular homeostasis.. (Alberts et al., 2002)
2. What are the monomers of the Hexosaminidase enzyme? Ans: Monomers of Hexosaminidase an Enzyme: The Hexosaminidase an enzyme consists of two subunits: an alpha subunit (produced from the HEXA gene) and a beta subunit (produced

from the HEXB gene). These subunits combine to form the functional beta-hexosaminidase, an enzyme. Its role is to break down GM2 ganglioside, a lipid found in cell membranes, particularly in nervous tissue (Mahuran, 1999).

3. What is the composition of a cell’s plasma membrane? ANS: Composition of a Cell’s Plasma Membrane: The plasma membrane (cell membrane) is composed of proteins and lipids, specifically a phospholipid bilayer. The phospholipids have hydrophilic heads (facing outward) and hydrophobic tails (facing inward). The membrane separates the cell’s interior from the external environment, regulates material entry and exit, and plays a critical role in maintaining cellular homeostasis. (Alberts et al., 2002)
4. List all the non-membrane-bound and all the membrane-bound cellular organelles in a eukaryotic cell. ANS: Non-Membrane-Bound and Membrane-Bound Organelles in Eukaryotic Cells: Non-Membrane-Bound Organelles: Ribosomes (involved in protein synthesis) Cytoskeleton components (filaments, microtubules, centrioles) (Alberts et al., 2002) Membrane-Bound Organelles: Nucleus (stores genetic material) Mitochondria (energy production) Endoplasmic reticulum (ER) (lipid and protein synthesis) Golgi apparatus (modifies, sorts, and packages proteins)

disease does affect developmental milestones and is known to cause severe cognitive and motor function impairments. (Kaback & Desnick, 2001). References Alberts, B., Johnson, A., Lewis, J., Raff, M., Roberts, K., & Walter, P. (2002). Molecular Biology of the Cell (4th ed.). New York: Garland Science. Kaback, M. M., & Desnick, R. J. (2001). Tay-Sachs Disease: From Clinical Description to Molecular Defect. In Genetics of Neurological and Psychiatric Disorders (pp. 1-18). New York: Marcel Dekker. Mahuran, D. J. (1999). Biochemical consequences of mutations causing the GM2 gangliosidoses. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1455(2-3), 105-138. doi:10.1016/S0925-4439(99)00073-