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Vitamin D’s effect on a rare genetic disorder revealed in a new animal study

Posted on: September 28, 2014   by  Vitamin D Council


A new study published in Journal of Neuroscience Research has found that vitamin D relates to the development of Krabbe disease and that vitamin D supplementation may improve clinical outcomes.

Krabbe disease (KD) is a rare genetic disease that occurs at birth with an approximate incidence rate of one in every 100,000 births in the United States. In babies with KD, a mutation in a gene causes a deficiency in an enzyme responsible for metabolizing lipids.

The un-metabolized lipids build up and eventually destroy the protective coating of nerve cells, known as the myelin sheath, throughout the nervous system, causing a loss in motor skills.

There is no known cure for KD and it often doesn’t present in infants until between the ages of 3 and 6 months. The disease is often fatal, although late onset KD is shown to have a slower progression.

There are two mechanisms by which vitamin D may be related to KD. Vitamin D is shown to be able to bind to cells in the nervous system and in multiple sclerosis, vitamin D helps prevent immune cells from entering the nervous system and attacking the myelin sheaths.

Higher incidence rates have been reported in areas further away from the equator, where there is less sunlight and therefore less potential to synthesize vitamin D. In northern European countries such as Sweden and Finland, the incidence rate is around one in 50,000 births.

Therefore, researchers recently conducted an experiment using a mouse model for KD to determine if and how vitamin D effects the progression of the disease.

In their experimental model of KD, the researchers first found that the mice had lower levels of activated vitamin D and increased inflammation in the brain.

They then gave the mice vitamin D supplementation in their diet, which delayed the onset of locomotor disabilities and tremors. The vitamin D-supplemented diet also led to an anti-inflammatory response that protected the myelin sheaths in the central nervous system and increased antioxidant defenses.

“Together these data provide the first evidence that vitamin D deficiency affects disease development in mice and that vitamin D3 supplementation has the potential to improve the efficacy of KD therapeutics,” the researchers concluded.


Paintlia, M., Singh, I., & Singh, A. Effect of vitamin D3 intake on the onset of disease in a murine model of human Krabbe disease. Journal of Neuroscience Research, 2014.

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