new_n_lost
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An 18-year-old male takes an employment physical examination that is remarkable for a systolic murmur preceded by a distinct click on auscultation. The patient has unique body features, with unusually long legs and long, tapering fingers. An ocular examination reveals dislocation of the lens.
An abnormality of which of the following gene products is thought to underlie this condition?
A. Collagen
B. Dystrophin
C. Elastin
D. Fibrillin
E. Myosin b-chain
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| hope4dabest
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D
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| icandoittoo
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| SmokyWaters
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| new_n_lost
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hope4dabest wrote:
D
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FORUM RULES-- Those who believe in telekinesis, raise my hand. I get enough exercise just by pushing my luck --P4U World.." The pure and simple truth is rarely pure and never simple."
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| new_n_lost
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The correct answer is D.
The genetic condition is Marfan syndrome, which is characterized by skeletal, ocular, and cardiovascular abnormalities. Typically, Marfan patients are tall with very long legs and tapering fingers. Laxity of joints is present, so that the thumb can be extended back to the wrist. Chest and spinal column deformities may be present as well. The most frequent cardiovascular anomalies are incompetence of the aortic valve, aortic dissection, and mitral valve prolapse ("floppy valve"). The latter may give rise to mitral regurgitation with the typical auscultatory phenomenon of a systolic click followed by a murmur. The most characteristic ocular change is ectopia lentis, i.e., dislocation of the lens. Most deaths are due to rupture of aortic dissections. The gene mutated in Marfan syndrome encodes fibrillin, a 350-kD protein that serves as scaffolding for the deposition of elastin and formation of elastic fibers.
Elastin (choice C) is a 70-kD protein that constitutes the central core of elastic fibers. Abundant elastin is found in the walls of large arteries, uterus, skin, and ligaments. Although elastic fibers are disrupted by mutations of the fibrillin gene, the structure of elastin protein is intact in Marfan syndrome.
Collagen (choice A) is affected in a different set of genetic diseases, including Ehlers-Danlos syndromes and osteogenesis imperfecta.
Dystrophin (choice B) is a large transmembrane protein whose function is essential in maintaining the structural integrity of striated muscle fibers. Mutations of the dystrophin gene, located on X chromosome, are responsible for muscular dystrophy.
Mutations of the gene for myosin b-chain (choice E) account for more than one third of cases of hypertrophic cardiomyopathy, a condition characterized by hypertrophy of the left ventricle. Hypertrophic cardiomyopathy is not associated with mitral valve prolapse.
___________________
FORUM RULES-- Those who believe in telekinesis, raise my hand. I get enough exercise just by pushing my luck --P4U World.." The pure and simple truth is rarely pure and never simple."
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