Exam 10: Lipids
Explain the cause of hereditary diseases of sphingolipid metabolism, such as Tay-Sachs and Niemann-Pick diseases.
Hereditary diseases of sphingolipid metabolism, such as Tay-Sachs and Niemann-Pick diseases, are caused by genetic mutations that affect the enzymes responsible for breaking down sphingolipids. Sphingolipids are a type of lipid found in cell membranes and are involved in various cellular functions.
In Tay-Sachs disease, a mutation in the HEXA gene leads to a deficiency in the enzyme hexosaminidase A, which is responsible for breaking down a specific sphingolipid called GM2 ganglioside. As a result, GM2 ganglioside accumulates in the nerve cells of the brain, leading to progressive neurodegeneration and ultimately, death.
Similarly, in Niemann-Pick disease, mutations in genes such as SMPD1 or NPC1/NPC2 lead to deficiencies in enzymes involved in the breakdown of sphingomyelin, another type of sphingolipid. The accumulation of sphingomyelin in various tissues, particularly in the liver, spleen, and brain, leads to the characteristic symptoms of the disease, including hepatosplenomegaly, lung and neurological problems.
These hereditary diseases of sphingolipid metabolism are inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the disease. The severity and specific symptoms of these diseases can vary depending on the specific genetic mutation and the extent of enzyme deficiency. Currently, there is no cure for these diseases, and treatment focuses on managing symptoms and improving quality of life for affected individuals.
Match the compounds on the left with the important roles they play listed on the right. (Answers are used only once.)
(a) prostaglandins
___ blood clotting
(b) vitamin E
___ intra-tissue messengers
(c) sphingolipids
___ necessary for sight
(d) thromboxanes
___ mediates pain and inflammation
(e) vitamin A
___ important component of myelin membranes
(f) steroids
___ reducing agent
To match the compounds with their roles:(a) prostaglandins - mediates pain and inflammation
(b) vitamin E - reducing agent
(c) sphingolipids - important component of myelin membranes
(d) thromboxanes - blood clotting
(e) vitamin A - necessary for sight
(f) steroids - intra-tissue messengers
So the full answer would be:
(a) prostaglandins - (d) mediates pain and inflammation
(b) vitamin E - (f) reducing agent
(c) sphingolipids - (e) important component of myelin membranes
(d) thromboxanes - (a) blood clotting
(e) vitamin A - (c) necessary for sight
(f) steroids - (b) intra-tissue messengers
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Which technique is NOT commonly used to analyze lipid composition?
Describe how vitamin A1 (all-trans-retinol) is altered to produce the visual pigment used in rhodopsin to absorb visible light. Include in your description what is structurally altered in this visual pigment upon light absorption.
What feature do Tay-Sachs disease, Fabry disease, and Niemann-Pick disease have in common?
Which feature allows certain lipid molecules to be used as colorful pigments in plants and animals?
Which compound can be cleaved in half to generate a molecule important in vision?
Describe the dependence of the melting point of a fatty acid upon (a) chain length and (b) unsaturation; (c) explain these dependencies in molecular terms.
Which types of signaling lipids are produced by platelets to aid in the formation of blood clots?
Which statement BEST describes why lipids typically float on water?
Tay-Sachs disease is the result of a genetic defect in the metabolism of:
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