Podcast
Questions and Answers
In I-cell disease, the primary defect leads to the mislocalization of enzymes due to a failure in what process?
In I-cell disease, the primary defect leads to the mislocalization of enzymes due to a failure in what process?
Which cellular component is responsible for the synthesis of proteins destined for secretion or incorporation into the plasma membrane?
Which cellular component is responsible for the synthesis of proteins destined for secretion or incorporation into the plasma membrane?
If newly synthesized proteins in the endoplasmic reticulum fail to achieve their correct three-dimensional structure, which cellular response is most likely to be triggered?
If newly synthesized proteins in the endoplasmic reticulum fail to achieve their correct three-dimensional structure, which cellular response is most likely to be triggered?
A cell with a mutation affecting the function of GlcNac-1-phosphotransferase would most directly exhibit which of the following?
A cell with a mutation affecting the function of GlcNac-1-phosphotransferase would most directly exhibit which of the following?
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What is the primary function of the sarcoplasmic reticulum in muscle cells?
What is the primary function of the sarcoplasmic reticulum in muscle cells?
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A patient exhibits premature aging affecting the musculoskeletal and cardiovascular systems. Which organelle is most likely implicated?
A patient exhibits premature aging affecting the musculoskeletal and cardiovascular systems. Which organelle is most likely implicated?
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Which of the following is associated with the accumulation of gangliosides in neurons, leading to neurological degeneration and a cherry-red spot?
Which of the following is associated with the accumulation of gangliosides in neurons, leading to neurological degeneration and a cherry-red spot?
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A defect in which organelle is most likely to cause a buildup of very long chain fatty acids in the blood?
A defect in which organelle is most likely to cause a buildup of very long chain fatty acids in the blood?
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A patient with neuromuscular disease symptoms most likely has a defect in which organelle?
A patient with neuromuscular disease symptoms most likely has a defect in which organelle?
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Skeletal muscle abnormalities, mental defects and an accumulation of GAGs in the urine are most closely associated with a defect in which enzyme?
Skeletal muscle abnormalities, mental defects and an accumulation of GAGs in the urine are most closely associated with a defect in which enzyme?
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Which of the following is characterized by defective physical growth and mental defects, along with secreted lysosomal enzymes present in the blood?
Which of the following is characterized by defective physical growth and mental defects, along with secreted lysosomal enzymes present in the blood?
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Impaired brain development, and lesions in the liver and kidneys are most likely associated with a defect in which organelle?
Impaired brain development, and lesions in the liver and kidneys are most likely associated with a defect in which organelle?
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A five year old girl presents to her physician with delays in physical growth, and inability to form full sentences. Lab results show the presence of polysaccharides in her urine. What is most likely defected?
A five year old girl presents to her physician with delays in physical growth, and inability to form full sentences. Lab results show the presence of polysaccharides in her urine. What is most likely defected?
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A patient presents with symptoms including premature aging, disfigured nuclei, and cardiovascular issues. Which protein is most likely mutated in this patient?
A patient presents with symptoms including premature aging, disfigured nuclei, and cardiovascular issues. Which protein is most likely mutated in this patient?
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A deficiency in which enzyme causes a buildup of ganglioside in neurons, leading to neurological deterioration and a characteristic cherry-red spot on the retina?
A deficiency in which enzyme causes a buildup of ganglioside in neurons, leading to neurological deterioration and a characteristic cherry-red spot on the retina?
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A buildup of glycosaminoglycans (GAGs) in various tissues, along with skeletal abnormalities and mental defects, is characteristic of a deficiency in which enzyme?
A buildup of glycosaminoglycans (GAGs) in various tissues, along with skeletal abnormalities and mental defects, is characteristic of a deficiency in which enzyme?
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A mutation in peroxins would directly lead to dysfunction in which process?
A mutation in peroxins would directly lead to dysfunction in which process?
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A patient has a build-up of very long chain fatty acids in their blood. Which organelle is most likely not functioning correctly?
A patient has a build-up of very long chain fatty acids in their blood. Which organelle is most likely not functioning correctly?
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Mitochondrial myopathies are often difficult to diagnose. Which of the following is a reason for this difficulty?
Mitochondrial myopathies are often difficult to diagnose. Which of the following is a reason for this difficulty?
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What is the primary function of the enzyme catalase found within peroxisomes?
What is the primary function of the enzyme catalase found within peroxisomes?
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A cell’s nuclear lamina provides structural support that helps provide shape and rigidity to which of the following?
A cell’s nuclear lamina provides structural support that helps provide shape and rigidity to which of the following?
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What is the name of the truncated protein that results from a mutation in Lamin A, implicated in the disease progeria?
What is the name of the truncated protein that results from a mutation in Lamin A, implicated in the disease progeria?
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Which organelle is correctly matched with its clinical correlate?
Which organelle is correctly matched with its clinical correlate?
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Match the following diseases with the organelle that is primarily affected.
Match the following diseases with the organelle that is primarily affected.
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Match the following enzymes with the disease in which they are deficient.
Match the following enzymes with the disease in which they are deficient.
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Match the following disease symptoms with the corresponding organelle.
Match the following disease symptoms with the corresponding organelle.
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Match the following diseases with the primary defect that causes them.
Match the following diseases with the primary defect that causes them.
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Match the following conditions with the organelle most directly impacted.
Match the following conditions with the organelle most directly impacted.
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Match the following diseases with the characteristic clinical features.
Match the following diseases with the characteristic clinical features.
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Match the following diseases with the accumulation of specific substances in the body.
Match the following diseases with the accumulation of specific substances in the body.
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Match the following diseases with the affected organ system.
Match the following diseases with the affected organ system.
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Match the following diseases with the inheritance pattern.
Match the following diseases with the inheritance pattern.
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Match the following diseases with the typical age of symptom onset.
Match the following diseases with the typical age of symptom onset.
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Match the following diseases with their associated defective organelles:
Match the following diseases with their associated defective organelles:
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Match the following clinical features with the corresponding disease:
Match the following clinical features with the corresponding disease:
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Match the following defects with their enzymatic consequences:
Match the following defects with their enzymatic consequences:
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Match the organelle with its impact when defective:
Match the organelle with its impact when defective:
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Match the organelle dysfunction with the potential disease symptoms:
Match the organelle dysfunction with the potential disease symptoms:
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Match the following diseases with their associated organelles:
Match the following diseases with their associated organelles:
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Match the diseases with their primary mutations:
Match the diseases with their primary mutations:
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Match the diseases with their notable features:
Match the diseases with their notable features:
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Match the organelles with their associated defects:
Match the organelles with their associated defects:
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Match the diseases with their clinical manifestations:
Match the diseases with their clinical manifestations:
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Match the diseases with the type of accumulation:
Match the diseases with the type of accumulation:
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Match the diseases with their diagnostic methods:
Match the diseases with their diagnostic methods:
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Match the organelles with their corresponding diseases based on enzyme deficiencies:
Match the organelles with their corresponding diseases based on enzyme deficiencies:
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Flashcards
Endoplasmic Reticulum (ER)
Endoplasmic Reticulum (ER)
A network of interconnected sacs and tubules throughout the cytoplasm of eukaryotic cells. Plays a crucial role in the synthesis, folding, and modification of proteins.
Sarcoplasmic Reticulum
Sarcoplasmic Reticulum
A specialized type of endoplasmic reticulum found in muscle cells. It serves as a storage site for intracellular calcium, essential for muscle contraction.
Unfolded Protein Response (UPR)
Unfolded Protein Response (UPR)
A cellular quality control mechanism that ensures proper folding of newly synthesized proteins. If a protein misfolds, the ER triggers a response that can lead to cell death.
Golgi Apparatus
Golgi Apparatus
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I-Cell Disease
I-Cell Disease
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Progeria
Progeria
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Mitochondrial Myopathies
Mitochondrial Myopathies
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Tay-Sachs
Tay-Sachs
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Hurler Syndrome
Hurler Syndrome
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Tay-Sachs Disease
Tay-Sachs Disease
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Zellweger Syndrome
Zellweger Syndrome
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Hurler Syndrome
Hurler Syndrome
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Na+/K+ ATPase (Sodium-Potassium Pump)
Na+/K+ ATPase (Sodium-Potassium Pump)
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Nucleus
Nucleus
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Smooth Endoplasmic Reticulum (SER)
Smooth Endoplasmic Reticulum (SER)
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Mitochondria
Mitochondria
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Lysosome
Lysosome
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Peroxisome
Peroxisome
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What is the role of RER?
What is the role of RER?
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What is the function of the sarcoplasmic reticulum?
What is the function of the sarcoplasmic reticulum?
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What is the Unfolded Protein Response (UPR)?
What is the Unfolded Protein Response (UPR)?
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Describe the functions of the Golgi apparatus.
Describe the functions of the Golgi apparatus.
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What is I-cell disease?
What is I-cell disease?
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What does the Na+/K+ ATPase do?
What does the Na+/K+ ATPase do?
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What is the function of the nucleus?
What is the function of the nucleus?
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What is the role of the nuclear lamina?
What is the role of the nuclear lamina?
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How is the outer nuclear membrane related to the ER?
How is the outer nuclear membrane related to the ER?
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What is Progeria?
What is Progeria?
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What is the function of mitochondria?
What is the function of mitochondria?
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How is mtDNA inherited?
How is mtDNA inherited?
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What are Mitochondrial Myopathies?
What are Mitochondrial Myopathies?
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What is the function of lysosomes?
What is the function of lysosomes?
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What is Tay-Sachs Disease?
What is Tay-Sachs Disease?
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Study Notes
Eukaryotic Cell Components
-
Plasma membrane
- Selectively permeable to ions and organic molecules
- Phospholipid bilayer (2 hydrophobic fatty acid tails connected to a hydrophilic head)
- Major component: Lipids + Proteins
- Lipids
- 75% phospholipids
- 20% cholesterol
- 5% glycolipids
- Contribute to membrane fluidity
- Cell recognition (ABO blood group antigens)
- Proteins
- Integral membrane proteins (permanent association)
- Peripheral membrane proteins (transient association)
- Involved in transporting, anchoring, and signaling
- Examples: channels, receptors, pumps
- Lipids
-
6 membrane-enclosed organelles
-
Nucleus
- Information storage (DNA)
- Surrounded by a nuclear envelope with 2 lipid bilayers
- Inner nuclear membrane (INM) proteins form nuclear lamina (shapes and structural integrity)
- Outer nuclear membrane (ONM) is continuous with ER membrane
- Progeria case study: mutation in Lamin A leads to a truncated protein, progerin, causing premature aging.
-
Mitochondria
- Membrane-bound organelle (inner and outer membrane with matrix inside)
- Functions include energy production (ATP), oxidative phosphorylation, Krebs cycle, fatty acid and steroid synthesis.
- Mitochondrial DNA (mtDNA) originates solely from the mother, encoding for many proteins required by the mitochondria
- Mitochondrial Myopathies: mutations in mtDNA can cause various neuromuscular weaknesses, including drooping eyelids and swallowing difficulties., symptoms depend upon which organs are affected.
-
Lysosomes
- Membrane-bound organelles filled with digestive enzymes (hydrolases)
- Break down macromolecules.
- Important in immunity by breaking down engulfed pathogens.
- Tay-Sachs Disease: a deficiency in Hexosaminidase A causes ganglioside accumulation, resulting in neurological deterioration, cherry red spot on retina.
- Hurler Syndrome: a deficiency in alpha-L-iduronidase leads to glycosaminoglycan accumulation. Skeletal muscle abnormalities and mental defects also arise.
-
Peroxisomes
- Membrane-bound organelles
- Provide environment for oxidative reactions (e.g., beta oxidation of very long-chain fatty acids)
- Contains catalase, which converts hydrogen peroxide to water and oxygen.
- Zellweger Syndrome: peroxisome biogenesis failure causes defects, fatty acid accumulation, impaired brain development, and early death.
-
Endoplasmic Reticulum (ER)
- Membrane-bound sacs/tubules continuous with the nuclear membrane
- Rough ER (RER) is studded with ribosomes, responsible for protein synthesis (secretory proteins) targeted toward PM or incorporation into vesicles
- Smooth ER (SER) is continuous with RER with no ribosomes associated. A major site of new membrane synthesis and storage for intracellular calcium.
- Unfolded protein response (UPR): Quality control for newly synthesized proteins; If misfolded, the cell tries to repair the protein or undergoes apoptosis.
-
Golgi Apparatus
- Source of secretory vesicles, with a cis and trans face
- Modifies, packages, and sorts proteins, notably by adding phosphate groups to certain proteins enabling their proper targeting.
- I-cell disease: deficiency in an enzyme that modifies lysosomal enzymes, leading to defective lysosomes functioning. Lysosomal enzymes are lacking the necessary enzymes and are released directly from the cell causing a build up of these in the blood.
-
-
Cytoskeleton
- Structural framework of the cell, composed of various proteins
Ion Concentrations Inside and Outside the Cell:
- Sodium-Potassium Pump (Na+/K+ ATPase):
- Pumps 3 sodium ions (Na+) out of the cell and 2 potassium ions (K+) into the cell. This creates a concentration gradient.
- 3 sodium ions out and 2 potassium ions in. This creates an important gradient for cell function.
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Description
Test your knowledge on the various components of eukaryotic cells, including the plasma membrane and organelles. This quiz covers the structure, function, and significance of key cellular structures such as lipids, proteins, and the nucleus. Perfect for biology students looking to reinforce their understanding of cell biology.