BPAN 101: WIPI4
BPAN RESULTS IN THE ABSENSE OF FUNCTIONING WIPI4 PROTEIN
BPAN is caused by mutations in the WDR45 gene. This gene provides instructions for making the WIPI4 protein. WIPI4 has a characteristic structure resembling a seven-bladed propeller, from which the name of the disorder is derived. The WIPI4 protein is involved in a process called autophagy, which helps clear unneeded materials from cells, including excess amounts of an iron storage protein called ferritin.
Most of the WDR45 gene mutations identified in people with BPAN result in the absence of functioning WIPI4 protein. As a result, the process of autophagy is impaired, making cells less efficient at removing damaged cell structures and waste materials. Researchers suggest that nerve cells (neurons) may be particularly vulnerable to impaired autophagy because they have long extensions (axons and dendrites), making it even more difficult to transport the waste materials from these structures to the compartments in the cell body where recycling takes place (the lysosomes). The waste materials can build up in these areas and damage them. Damage to neurons results in the neurological problems that occur in BPAN.
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