What happens because of the gene change that causes adrenoleukodystrophy?

The normal function of the ABCD1 gene is to produce a protein called the adrenoleukodystrophy protein (ALDP). When the ABCD1 gene is changed in someone with adrenoleukodystrophy, it results in a lack of the adrenoleukodystrophy protein. The role of this protein in our bodies is to bring specific fatty acids called very long chain fatty acids, or VLCFAs, into the peroxisomes, where they will be broken down. Peroxisomes are small sacs in our cells that help process many different molecules, including very long chain fatty acids. Without sufficient adrenoleukodystrophy protein, these fatty acids build up in the body, becoming toxic. Research shows that the high levels of very long chain fatty acids causes the breakdown of the insulation on our nerve cells, the myelin.

Genetics Home Reference. X-Linked adrenoleukodystrophy.

Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 300100: Last updated 9/2013.

Genetics Home Reference. ABCD1.

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