Topic: Adrenoleukodystrophy 

1. What causes Adrenoleukodystrophy? (i.e. genetic mutation) 

 A: Adrenoleukodystrophy is a genetic disease;  mutated genes (specifically the ABCD1 gene) on the X chromosome cause the disease. Adrenoleukodystrophy is passed down from parent to child as an X linked genetic trait. 

Source: (Medline plus)

2. What population is mainly affected by Adrenoleukodystrophy? Why? 

A: Males make up the majority of the portion of the population affected by Adrenoleukodystrophy because males have only one X chromosome. While females can be carriers of (ALD), they have two X chromosome, therefore they can carry one normal copy of the gene and one mutated copy. Female carriers with the mutation can be asymptomatic or show little/mild signs of ALD as compared to male carriers. 

Source: (Health line) 

3. What is the prognosis for Adrenoleukodystrophy? Additionally, can looking at the specific cells/functioning that is targeted by the disease lead to breakthroughs in finding a cure or further managing the disease/extending life expectancy. 

There are three distinct forms of Adrenoleukodystrophy: childhood cerebral form, adrenomyelopathy (onset in males, later on in life) and Addison's disease (impaired adrenal glad functioning). Specifically looking at the more severe childhood form of X-linked adrenoleukodystrophy, prognosis is grim. Two years of onset of symptoms, Adrenoleukodystrophy leads to a long term vegetative state. The child can live for up to 10 years in this vegetative state. 

"The loss of myelin and the progressive dysfunction of the adrenal gland are the primary characteristics of X-ALD (Medline Plus)." Current treatment plans include periodically monitoring adrenal functions; treatment with adrenal hormones can be of help. Stem cell transplantation is being researched as an option to treating the childhood form of X linked (ALD), however there is a small window of opportunity in which this treatment can be effective. Theory suggests that the use of stem cells can find their way to the brain and replace the missing/nonfunctioning ALD protein to slow damage. While there is no specific cure for X-ALD, bone marrow transplants can be beneficial to young boys who show early evidence for the childhood form. 

Source: (Medline Plus) ; (Cleveland Clinic) ; (The stop ALD foundation)

    • Matthew Marcello
      Matthew Marcello

      Are mutations in ABCD1 the only cause? Do different mutations lead to different severities?

      • Ashley Nunez
        Ashley Nunez

        Adrenoleukodystrophy effects the nervous system and the adrenal glands. The myelin coverings of axons within the brain and spinal chord are prone to  Demyelination, which makes it more difficult for nerves to relay messages to the brain. The disease also causes hormone imbalances-- adrenocortical insufficiency.  "More than 650 mutations in the ABCD1 gene have been found to cause X-linked adrenoleukodystrophy (national library of medicine)." ABCD1 is responsible for the production of the adrenoleukodystrophy protein (ALDP). ALDP's role is to aid in the breaking down of fatty acids. 

        Various mutations in the ABCD1 gene are the only cause of Adrenoleukodystrophy. The mutations in ABCD1 prevent production of adrenoleukodystrophy proteins in most people affected. While some individuals can still produce ALDP's, the proteins in these individuals are not able to perform their proper function. 

        Even if two family members have the same mutation, this does not mean that the clinical course of the disease will be the same in both affected individuals. 

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