All adrenoleukodystrophy patients carry the same mutation in the ABCD1 gene, however their clinical fates vary dramatically. Male patients, like Lorenzo from the film, have a 35-40% risk of developing the disease between 3 and 18 years of age whereas others develop it in adulthood. In adulthood, virtually all men and 80% of women with ALD develop a spinal cord disease. The disease caused by a mutation in ABCD1 leads to an increase in very long-chain fatty acids. These fatty acids cause stress to the endoplasmic reticulum of cells. This stress then leads to the destruction of myelin an important component in neural cells (we'll learn more about this later). Using a sheet of paper or electronically, draw a cell. (It doesn't have to be a specific type of cell any generic cell will do.) This cell is from a patient who suffers from adrenoleukodystrophy. Therefore, be sure to draw the following structures and make sure to label them: A. Plasma Membrane - doesn't need to be fancy B. Nucleus C. Nuclear Envelope D. Smooth and Rough Endoplasmic reticulum E. Peroxisome (looks just like a lysosome) F. Mitochondria G. Draw the accumulation of fatty acids near the endoplasmic reticulum.

Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
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All adrenoleukodystrophy patients carry the same mutation in the ABCD1 gene, however their clinical fates vary
dramatically. Male patients, like Lorenzo from the film, have a 35-40% risk of developing the disease between 3 and 18
years of age whereas others develop it in adulthood. In adulthood, virtually all men and 80% of women with ALD
develop a spinal cord disease. The disease caused by a mutation in ABCD1 leads to an increase in very long-chain fatty
acids. These fatty acids cause stress to the endoplasmic reticulum of cells. This stress then leads to the destruction of
myelin an important component in neural cells (we'll learn more about this later).
Using a sheet of paper or electronically, draw a cell. (It doesn't have to be a specific type of cell any generic cell
will do.) This cell is from a patient who suffers from adrenoleukodystrophy. Therefore, be sure to draw the
following structures and make sure to label them:
A. Plasma Membrane - doesn't need to be fancy
B. Nucleus
C. Nuclear Envelope
D. Smooth and Rough Endoplasmic reticulum
E. Peroxisome (looks just like a lysosome)
F. Mitochondria
G. Draw the accumulation of fatty acids near the endoplasmic reticulum.
Transcribed Image Text:All adrenoleukodystrophy patients carry the same mutation in the ABCD1 gene, however their clinical fates vary dramatically. Male patients, like Lorenzo from the film, have a 35-40% risk of developing the disease between 3 and 18 years of age whereas others develop it in adulthood. In adulthood, virtually all men and 80% of women with ALD develop a spinal cord disease. The disease caused by a mutation in ABCD1 leads to an increase in very long-chain fatty acids. These fatty acids cause stress to the endoplasmic reticulum of cells. This stress then leads to the destruction of myelin an important component in neural cells (we'll learn more about this later). Using a sheet of paper or electronically, draw a cell. (It doesn't have to be a specific type of cell any generic cell will do.) This cell is from a patient who suffers from adrenoleukodystrophy. Therefore, be sure to draw the following structures and make sure to label them: A. Plasma Membrane - doesn't need to be fancy B. Nucleus C. Nuclear Envelope D. Smooth and Rough Endoplasmic reticulum E. Peroxisome (looks just like a lysosome) F. Mitochondria G. Draw the accumulation of fatty acids near the endoplasmic reticulum.
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