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Questions and Answers
What is the primary consequence of sphingomyelinase enzyme deficiency?
What is the primary consequence of sphingomyelinase enzyme deficiency?
- Accumulation of sphingomyelin in the reticuloendothelial system (correct)
- Accumulation of sphingomyelin only in the central nervous system
- Accumulation of sphingomyelin in the liver only
- Accumulation of sphingomyelin in muscle tissues
Which of the following pairs a disease with its associated enzyme deficiency correctly?
Which of the following pairs a disease with its associated enzyme deficiency correctly?
- Hurler syndrome - iduronate transferase deficiency
- Krabbe disease - α-glucosidase deficiency
- Pompe disease - glucosyltransferase deficiency
- Fabry disease - α-galactosidase deficiency (correct)
Which symptom is most commonly associated with Hurler syndrome?
Which symptom is most commonly associated with Hurler syndrome?
- Cloudy cornea and skeletal deformities (correct)
- Skin eruptions such as angiokeratomas
- Psychomotor delays and irritability
- Enlarged liver without joint stiffness
What is the main difference in inheritance patterns between Hunter syndrome and Hurler syndrome?
What is the main difference in inheritance patterns between Hunter syndrome and Hurler syndrome?
Which of the following diseases results from a deficiency of the arylsulfatase A enzyme?
Which of the following diseases results from a deficiency of the arylsulfatase A enzyme?
What is a common symptom of Krabbe disease?
What is a common symptom of Krabbe disease?
What is the main structural component of cell membranes according to lipid classification?
What is the main structural component of cell membranes according to lipid classification?
Which of the following statements about sphingolipid synthesis is true?
Which of the following statements about sphingolipid synthesis is true?
Which cell type has a high capacity for phospholipid synthesis specifically for surfactant production?
Which cell type has a high capacity for phospholipid synthesis specifically for surfactant production?
What is the role of liver in phospholipid synthesis?
What is the role of liver in phospholipid synthesis?
What characterizes the polar head group of glycerophospholipids?
What characterizes the polar head group of glycerophospholipids?
Which of the following best describes the initiation of glycerophospholipid synthesis?
Which of the following best describes the initiation of glycerophospholipid synthesis?
What is the clinical significance of surfactant in the lungs?
What is the clinical significance of surfactant in the lungs?
In which cellular organelle does phospholipid synthesis primarily occur?
In which cellular organelle does phospholipid synthesis primarily occur?
Which of the following diseases is commonly associated with sphingolipid synthesis or breakdown?
Which of the following diseases is commonly associated with sphingolipid synthesis or breakdown?
What is the primary role of lung surfactant in relation to alveoli?
What is the primary role of lung surfactant in relation to alveoli?
What condition is commonly associated with a deficiency of surfactant in premature infants?
What condition is commonly associated with a deficiency of surfactant in premature infants?
What is the underlying enzyme deficiency in Gaucher disease?
What is the underlying enzyme deficiency in Gaucher disease?
Which disease is characterized by cherry-red spots in the eyes and developmental delay?
Which disease is characterized by cherry-red spots in the eyes and developmental delay?
Which phospholipid is identified as a major component of surfactant?
Which phospholipid is identified as a major component of surfactant?
Which cell type is responsible for myelination in the central nervous system?
Which cell type is responsible for myelination in the central nervous system?
What is the main cause of easy bruising in Gaucher disease?
What is the main cause of easy bruising in Gaucher disease?
What happens to nerve conduction when there is demyelination of axons?
What happens to nerve conduction when there is demyelination of axons?
In which condition is the enzyme hexosaminidase A deficient?
In which condition is the enzyme hexosaminidase A deficient?
Which of the following symptoms is NOT commonly associated with Niemann-Pick disease?
Which of the following symptoms is NOT commonly associated with Niemann-Pick disease?
Which fatty acid is commonly cleaved off by PLA2 during lipid degradation?
Which fatty acid is commonly cleaved off by PLA2 during lipid degradation?
What is the role of the blood-brain barrier regarding fatty acids?
What is the role of the blood-brain barrier regarding fatty acids?
Which of the following diseases commonly affects individuals of Ashkenazi Jewish descent?
Which of the following diseases commonly affects individuals of Ashkenazi Jewish descent?
A 6-month-old girl with failure to thrive and hepatosplenomegaly may likely have which condition?
A 6-month-old girl with failure to thrive and hepatosplenomegaly may likely have which condition?
What is the daily lipid synthesis requirement for oligodendrocytes to maintain myelin structure?
What is the daily lipid synthesis requirement for oligodendrocytes to maintain myelin structure?
Which enzyme deficiency is responsible for fatty acyl carnitine accumulation in MCAD deficiency?
Which enzyme deficiency is responsible for fatty acyl carnitine accumulation in MCAD deficiency?
What contributes to the tight packing of myelin in the peripheral nervous system?
What contributes to the tight packing of myelin in the peripheral nervous system?
What metabolic substance accumulates due to a deficiency in β-glucocerebrosidase?
What metabolic substance accumulates due to a deficiency in β-glucocerebrosidase?
What is the effect of phospholipase A1 on glycerophospholipids?
What is the effect of phospholipase A1 on glycerophospholipids?
Which of the following diseases would be associated with an enzyme that hydrolyzes ganglioside GM2?
Which of the following diseases would be associated with an enzyme that hydrolyzes ganglioside GM2?
What are the second messengers produced when PLC cleaves Phosphatidylinositol 4,5-bisphosphate (PIP2)?
What are the second messengers produced when PLC cleaves Phosphatidylinositol 4,5-bisphosphate (PIP2)?
Which molecule is the central molecule on which sphingolipids are based?
Which molecule is the central molecule on which sphingolipids are based?
What type of lipids are formed when ceramide reacts with UDP-sugars?
What type of lipids are formed when ceramide reacts with UDP-sugars?
Which of the following is NOT related to the clinical importance of sphingolipids?
Which of the following is NOT related to the clinical importance of sphingolipids?
What occurs when cholera toxin's A subunit is endocytosed into the cytoplasm?
What occurs when cholera toxin's A subunit is endocytosed into the cytoplasm?
What is the result of increased intracellular cAMP concentrations due to cholera toxin activity?
What is the result of increased intracellular cAMP concentrations due to cholera toxin activity?
What type of diseases are associated with deficiencies in lysosomal enzymes that degrade sphingolipids?
What type of diseases are associated with deficiencies in lysosomal enzymes that degrade sphingolipids?
What is the fate of GM1 gangliosides in relation to cholera toxin?
What is the fate of GM1 gangliosides in relation to cholera toxin?
What is a structural consequence of serine condensing with palmitoyl CoA during sphingolipid synthesis?
What is a structural consequence of serine condensing with palmitoyl CoA during sphingolipid synthesis?
What is likely the condition of a patient with a history of progressive hepatosplenomegaly and characteristic cells upon bone marrow biopsy?
What is likely the condition of a patient with a history of progressive hepatosplenomegaly and characteristic cells upon bone marrow biopsy?
Which of the following characteristics is associated with Niemann-Pick Type C disease?
Which of the following characteristics is associated with Niemann-Pick Type C disease?
What condition results from a deficiency of the lysosomal enzyme α-galactosidase?
What condition results from a deficiency of the lysosomal enzyme α-galactosidase?
Which of the following is a common clinical manifestation of Metachromatic leukodystrophy?
Which of the following is a common clinical manifestation of Metachromatic leukodystrophy?
Hurler syndrome is primarily associated with which of the following symptoms?
Hurler syndrome is primarily associated with which of the following symptoms?
What is a key feature of I-cell disease related to its enzyme deficiency?
What is a key feature of I-cell disease related to its enzyme deficiency?
Which of the following correctly describes the inheritance pattern of Hunter syndrome?
Which of the following correctly describes the inheritance pattern of Hunter syndrome?
Which class of membrane lipids is characterized by having a glycerol backbone, two fatty acid tails, and a phosphate group?
Which class of membrane lipids is characterized by having a glycerol backbone, two fatty acid tails, and a phosphate group?
What is the initial molecule formed during the synthesis of glycerophospholipids?
What is the initial molecule formed during the synthesis of glycerophospholipids?
Which cell type is primarily responsible for the synthesis of surfactant phospholipids in the lungs?
Which cell type is primarily responsible for the synthesis of surfactant phospholipids in the lungs?
What is the major metabolic site for the synthesis of phospholipids utilized for bile secretion?
What is the major metabolic site for the synthesis of phospholipids utilized for bile secretion?
Which polar head groups can be found in glycerophospholipids?
Which polar head groups can be found in glycerophospholipids?
What is the primary function of lung surfactant in relation to alveoli?
What is the primary function of lung surfactant in relation to alveoli?
Which of the following processes is characterized by the degradation of glycerophospholipids?
Which of the following processes is characterized by the degradation of glycerophospholipids?
Which lipid acts as the central molecule in the synthesis of sphingolipids?
Which lipid acts as the central molecule in the synthesis of sphingolipids?
What is a common result of dysfunction in sphingolipid synthesis or breakdown?
What is a common result of dysfunction in sphingolipid synthesis or breakdown?
Which of the following best describes an enzyme deficiency leading to the accumulation of glucocerebroside?
Which of the following best describes an enzyme deficiency leading to the accumulation of glucocerebroside?
What is a distinguishing symptom associated with Tay-Sachs disease?
What is a distinguishing symptom associated with Tay-Sachs disease?
What clinical presentation is most consistent with Niemann-Pick disease?
What clinical presentation is most consistent with Niemann-Pick disease?
What enzyme deficiency is primarily responsible for the symptoms seen in Gaucher disease?
What enzyme deficiency is primarily responsible for the symptoms seen in Gaucher disease?
Which syndrome is associated with a deficiency of iduronate sulfatase?
Which syndrome is associated with a deficiency of iduronate sulfatase?
What biochemical compound primarily accumulates in Tay-Sachs disease due to hexosaminidase A deficiency?
What biochemical compound primarily accumulates in Tay-Sachs disease due to hexosaminidase A deficiency?
In which condition is the enzyme sphingomyelin phosphodiesterase 1 deficient?
In which condition is the enzyme sphingomyelin phosphodiesterase 1 deficient?
What symptom is typically NOT associated with Gaucher disease?
What symptom is typically NOT associated with Gaucher disease?
Which of these conditions exhibits symptoms common in Ashkenazi Jews?
Which of these conditions exhibits symptoms common in Ashkenazi Jews?
What clinical finding is most likely in a 6-month-old baby with developmental delays due to enzyme deficiency?
What clinical finding is most likely in a 6-month-old baby with developmental delays due to enzyme deficiency?
What is the main role of lung surfactant in the respiratory system?
What is the main role of lung surfactant in the respiratory system?
Which condition is primarily caused by a deficiency in lung surfactant?
Which condition is primarily caused by a deficiency in lung surfactant?
What specific cell type is crucial for synthesizing surfactant in the lungs?
What specific cell type is crucial for synthesizing surfactant in the lungs?
Which factor contributes to the tight packing of myelin in the peripheral nervous system?
Which factor contributes to the tight packing of myelin in the peripheral nervous system?
Which lipids play a major role in myelin formation within the central nervous system?
Which lipids play a major role in myelin formation within the central nervous system?
What characterizes the response of phospholipase A2 during lipid degradation?
What characterizes the response of phospholipase A2 during lipid degradation?
The degradation of which specific lipids leads to the development of multiple sclerosis?
The degradation of which specific lipids leads to the development of multiple sclerosis?
What is the synthesis requirement of oligodendrocytes to maintain myelin structure?
What is the synthesis requirement of oligodendrocytes to maintain myelin structure?
What role does the blood-brain barrier play concerning fatty acids?
What role does the blood-brain barrier play concerning fatty acids?
Which symptom is associated with demyelination caused by multiple sclerosis?
Which symptom is associated with demyelination caused by multiple sclerosis?
What are the second messengers produced by the cleavage of Phosphatidylinositol 4,5-bisphosphate (PIP2) via PLC?
What are the second messengers produced by the cleavage of Phosphatidylinositol 4,5-bisphosphate (PIP2) via PLC?
Which of the following best describes the synthesis of sphingomyelin?
Which of the following best describes the synthesis of sphingomyelin?
What type of molecules result from the reaction of ceramide with UDP-sugars?
What type of molecules result from the reaction of ceramide with UDP-sugars?
Which clinical condition is associated with deficiencies of lysosomal enzymes that degrade sphingolipids?
Which clinical condition is associated with deficiencies of lysosomal enzymes that degrade sphingolipids?
What is a significant role of glycolipids found at the outer leaflet of the plasma membrane?
What is a significant role of glycolipids found at the outer leaflet of the plasma membrane?
What results from increased intracellular cAMP concentrations due to cholera toxin activity?
What results from increased intracellular cAMP concentrations due to cholera toxin activity?
What is the abnormally accumulated material in cells of a patient with progressive hepatosplenomegaly and characteristic symptoms?
What is the abnormally accumulated material in cells of a patient with progressive hepatosplenomegaly and characteristic symptoms?
What type of gangliosides serves as receptors for bacterial toxins such as cholera toxin?
What type of gangliosides serves as receptors for bacterial toxins such as cholera toxin?
Which fatty acid is involved in the condensation steps to form ceramide?
Which fatty acid is involved in the condensation steps to form ceramide?
What reaction occurs to sphingolipids at the outer membrane and influences cell interactions?
What reaction occurs to sphingolipids at the outer membrane and influences cell interactions?
Flashcards
Lung Surfactant
Lung Surfactant
A substance produced by the lungs, primarily composed of dipalmitoylphosphatidylcholine and surfactant proteins. It helps reduce the surface tension within the alveoli, preventing them from collapsing during expiration.
Neonatal Respiratory Distress Syndrome
Neonatal Respiratory Distress Syndrome
A condition, usually affecting premature infants, where the lungs lack sufficient surfactant. This leads to difficulty breathing and the collapse of alveoli during expiration.
Type II Epithelial Cells
Type II Epithelial Cells
A type of cell that produces surfactants in the lungs.
Blood-Brain Barrier
Blood-Brain Barrier
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Essential Fatty Acids
Essential Fatty Acids
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Very Long Chain Fatty Acids
Very Long Chain Fatty Acids
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Oligodendrocyte
Oligodendrocyte
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Schwann Cell
Schwann Cell
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Multiple Sclerosis
Multiple Sclerosis
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Phospholipases
Phospholipases
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Sphingolipidoses
Sphingolipidoses
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Niemann-Pick Disease
Niemann-Pick Disease
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Fabry Disease
Fabry Disease
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Krabbe Disease
Krabbe Disease
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Metachromatic Leukodystrophy
Metachromatic Leukodystrophy
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Hunter and Hurler Syndromes
Hunter and Hurler Syndromes
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What are glycerophospholipids?
What are glycerophospholipids?
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How does synthesis of glycerophospholipids begin?
How does synthesis of glycerophospholipids begin?
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Where does glycerophospholipid synthesis take place?
Where does glycerophospholipid synthesis take place?
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What are the functions of phospholipids produced by the liver and intestines?
What are the functions of phospholipids produced by the liver and intestines?
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Why do Type II lung cells produce a lot of phospholipids?
Why do Type II lung cells produce a lot of phospholipids?
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What is ceramide and how is it formed?
What is ceramide and how is it formed?
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What are sphingolipids and what are their functions?
What are sphingolipids and what are their functions?
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What are sphingolipidoses?
What are sphingolipidoses?
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What are the symptoms and treatment of sphingolipidoses?
What are the symptoms and treatment of sphingolipidoses?
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Gaucher disease
Gaucher disease
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Tay-Sachs disease
Tay-Sachs disease
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Pompe disease
Pompe disease
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Hunter syndrome
Hunter syndrome
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I-cell disease
I-cell disease
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MCAD deficiency
MCAD deficiency
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What is the role of phospholipase C (PLC) in cell signaling?
What is the role of phospholipase C (PLC) in cell signaling?
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What are sphingolipids and what is their unique structure?
What are sphingolipids and what is their unique structure?
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How is ceramide formed?
How is ceramide formed?
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How is sphingomyelin made?
How is sphingomyelin made?
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How are cerebrosides formed?
How are cerebrosides formed?
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What are globosides and gangliosides?
What are globosides and gangliosides?
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What are the functions of glycosphingolipids in the body?
What are the functions of glycosphingolipids in the body?
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What happens when there are problems with sphingolipid degradation?
What happens when there are problems with sphingolipid degradation?
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How do cholera toxin and E. coli enterotoxin affect cells?
How do cholera toxin and E. coli enterotoxin affect cells?
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What is the first step in glycerophospholipid synthesis?
What is the first step in glycerophospholipid synthesis?
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Where are glycerophospholipids mainly synthesized?
Where are glycerophospholipids mainly synthesized?
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Why do Type II lung cells have a high phospholipid production rate?
Why do Type II lung cells have a high phospholipid production rate?
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What are sphingolipids and their functions?
What are sphingolipids and their functions?
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What is the key function of lung surfactant?
What is the key function of lung surfactant?
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What are glycerophospholipids and their structure?
What are glycerophospholipids and their structure?
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What are lysosomal storage diseases and how are they caused?
What are lysosomal storage diseases and how are they caused?
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Mucopolysaccharidoses (Hunter and Hurler syndromes)
Mucopolysaccharidoses (Hunter and Hurler syndromes)
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What is surfactant?
What is surfactant?
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What is Neonatal Respiratory Distress Syndrome?
What is Neonatal Respiratory Distress Syndrome?
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What are Type II epithelial cells?
What are Type II epithelial cells?
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What is the blood-brain barrier?
What is the blood-brain barrier?
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What are essential fatty acids?
What are essential fatty acids?
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What is an oligodendrocyte?
What is an oligodendrocyte?
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What is a Schwann cell?
What is a Schwann cell?
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What is multiple sclerosis?
What is multiple sclerosis?
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What are phospholipases?
What are phospholipases?
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What are sphingolipids and their unique structure?
What are sphingolipids and their unique structure?
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Study Notes
Synthesis of Membrane Lipids
- Sphingolipidoses are diseases related to the synthesis and breakdown of sphingolipids.
- Pages 699-706 and 1037-1041 of Marks' Basic Medical Biochemistry, 6th Ed. detail these processes.
- Biochemistry, Cell and Molecular Biology, and Genetics, Part VI, Chapter 41 (pages 348-354) also cover this topic.
- Sphingolipids are crucial components of cell membranes and play roles in cell-cell interactions and as antigenic determinants.
Learning Objectives
- Understanding the major membrane lipids and their cellular functions is essential.
- Glycerophospholipid synthesis, along with the importance of surfactant, is a crucial component.
- Glycerophospholipid degradation and relevant enzymes need to be understood.
- Sphingolipid and ceramide synthesis should be outlined.
- Recognizing and distinguishing lysosomal storage diseases (sphingolipidoses) is paramount.
- The clinical significance of sphingolipids in various diseases, including sphingolipidoses, needs attention
Glycerolipids and Sphingolipids
- Glycerolipids include triacylglycerols, stored in adipose tissue and blood lipoproteins.
- Glycerophospholipids (phospholipids) are major components of cell membranes, including phosphatidylcholine, phosphatidylethanolamine, phosphatidylserine, phosphatidylinositol bisphosphate (PIP2), phosphatidylglycerol, and cardiolipin.
- Sphingolipids include sphingophospholipids (such as sphingomyelin) and glycolipids (such as cerebrosides, sulfatiides, globosides, and gangliosides).
- The structure of each lipid is described, highlighting the polar head group and nonpolar tails.
- Specific examples of sphingolipids and structures involved in synthesis and degradation are provided.
Glycerophospholipids
- Glycerophospholipids are abundant in cell membranes and are the main structural components and are associated with a variety of proteins.
- The structure consists of two fatty acid tails attached to a glycerol backbone, plus a phosphate group and a highly polar head group.
- The hydrophobic fatty acid tails face inward, while the hydrophilic head groups face outward. This orientation allows interaction with water in the cell.
Synthesis of Glycerophospholipids
- Initial synthesis steps mimic those of triacylglycerol synthesis.
- Glycerol-3-phosphate reacts with two fatty acyl-CoA molecules to form phosphatidic acid.
- Subsequent reactions convert phosphatidic acid into specific glycerophospholipids.
Synthesis of Glycerophospholipids (continued)
- Cells, excluding mature red blood cells, synthesize phospholipids.
- Synthesis occurs primarily on the cytosolic surface of the ER and Golgi complex.
- The liver is a major site for phospholipid synthesis.
- Phospholipids are essential for bile production, and for coating lipoproteins.
- Type II lung cells specialize in surfactant production.
Lung Surfactant
- Comprised of predominantly phospholipids, surfactant prevents alveolar collapse.
- Surfactant reduces surface tension in the alveoli, facilitating lung inflation.
- Dipalmitoylphosphatidylcholine is the major phospholipid component of lung surfactant.
Lack of Surfactant
- Lack of surfactant in premature infants can lead to neonatal respiratory distress syndrome (RDS).
- Immature lungs may not produce sufficient surfactant, leading to difficulties in breathing.
Membrane Lipids in the Brain and Peripheral Nervous System
- Blood-brain barrier restricts non-essential fatty acid entry; essential fatty acids are absorbed.
- Virtually all nerve system lipids are manufactured within the central nervous system (CNS), including cholesterol, fatty acids, sphingolipids, and phospholipids.
- The very long-chain fatty acids produced within the brain are major components of myelin.
- Myelin consists of multiple layers of tightly packed lipids, ensuring fast nerve impulse transmission.
- Myelin formation and maintenance are specifically described.
Loss of Phospholipids and Sphingolipids
- Loss of phospholipids and sphingolipids in the brain and spinal cord is associated with multiple sclerosis.
- Demyelination affects nerve conduction and can cause a range of neurological problems, including sensory loss, weakness, muscle cramps, autonomic dysfunctions (bladder, bowel, sexual), and cognitive decline.
Degradation of Glycerophospholipids
- Phospholipases are enzymes responsible for breaking down glycerophospholipids into smaller components.
- PLA1 removes a fatty acid at C1 position.
- PLA2 removes a fatty acid at C2 position, crucial for the production of eicosanoids.
- PLC hydrolyzes phosphatidylinositol phosphate.
- Many reactions involving these enzymes take place in membranes or lysosomes.
- Specific examples of phospholipases are provided (PLA1, PLA2, PLC).
Sphingolipids
- Sphingolipids are based on ceramide.
- Ceramide is constructed from sphingosine and a fatty acid.
- Sphingomyelin is formed by the reaction of ceramide with phosphocholine.
- Cerebrosides are synthesized from ceramide and a sugar (e.g., glucose or galactose).
- Additional sugars lead to globosides and gangliosides.
- The metabolic pathway and reaction pathways associated with sphingolipids synthesis are outlined and described.
Clinical Importance of Sphingolipids
- Glycolipids function in cell-cell interactions.
- Some glycolipids act as antigens (e.g., ABO groups).
- Certain gangliosides are bacterial toxin receptors (e.g., cholera toxin).
- Sphingolipids are degraded within the lysosomes.
- Sphingolipidoses are lysosomal storage diseases caused by enzyme deficiencies that affect sphingolipid breakdown.
- Specific examples of sphingolipidoses (Niemann-Pick, Fabry, Krabbe, Gaucher, Tay-Sachs, and Metachromatic leukodystrophy) their associated enzyme deficiencies, accumulated products, and clinical consequences.
GM1 Gangliosides
- GM1 gangliosides are the binding sites for cholera toxin and certain E. coli toxins.
- The toxin A subunit enters cells, affecting cellular pathways and causing fluid loss.
Sphingolipidoses (continued)
- Each sphingolipidosis is associated with the deficiency of a specific enzyme involved in sphingolipid degradation.
- Defective enzymes lead to accumulation of specific sphingolipid metabolites.
- These metabolites cluster in lysosomes , tissues, especially the brain, and trigger a variety of symptoms and clinical manifestations.
- The clinical manifestation and consequences of the different sphingolipidoses are further described.
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Description
This quiz covers the synthesis and degradation of membrane lipids, focusing on glycerophospholipids and sphingolipids. It outlines the cellular functions of major lipids and discusses lysosomal storage diseases such as sphingolipidoses. Reference pages from Marks' Basic Medical Biochemistry and designated chapters in Cell and Molecular Biology provide essential insights.
