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ALD Genetics 2

Page history last edited by Alex Burgan 14 years, 8 months ago

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Overview

ALDP is a transporter for VLCFA 

 

X-ALD occurs from a mutation on the ABCD1 gene located on the X-chromosome that prevents the degredation of long chain fatty acids, which then build up in body tissue. This occurs primarily in the brain and central nervous system. Eventually, the myelin sheath surrounding the nerves is destroyed, leading to neurological problems.

 

 


 Inheritance

 

The gene for X-ALD is located on the X chromosome. Because women have two X chromosomes, the normal copy of the gene prevents the defective copy from being evident. Men only have one X chromosome so there is no other copy to keep the disease from progressing. This is why the disease symptoms are most prevalent in males.

 

 

Female carrier situation     Male patient situation

 

 

 

[1] 

 

 

Footnotes

  1. Engelen, Marc, and Stephan Kemp. "Facts on X-Linked Adrenoleukodystrophy (X-ALD)." X-ALD. March 03, 2009. Web. 1 Nov 2009. .

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