Adrenoleukodystrophy

Causes

What gene change causes adrenoleukodystrophy?

Adrenoleukodystrophy is caused by changes in the ABCD1 gene, located on the X chromosome.

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What happens because of the gene change that causes adrenoleukodystrophy?

What specific organs and body systems tend to be affected in people with X-linked adrenoleukodystrophy?

Are changes in the ABCD1 gene a predisposition or a cause?

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.

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What specific organs and body systems tend to be affected in people with X-linked adrenoleukodystrophy?

The organ and body systems most commonly affected in X-linked adrenoleukodystrophy are the adrenal glands, the brain and nervous system, and the genitourinary system. Changes to these systems may include a decrease in certain hormones, behavior changes, problems with coordination, and sexual dysfunction. Symptoms and the severity of those symptoms vary between affected individuals.

References
Are changes in the ABCD1 gene a predisposition or a cause?

Changes in the ABCD1 gene in males are considered causative, not a predisposition, for X-linked adrenoleukodystrophy, including the cerebral form, adrenomyeloneuropathy, and the Addison-disease only form. This being said, symptoms and the age that those symptoms begin can vary between individuals and some boys and men may not realize they have the gene change.

References

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