Lysosomes and Krabbe Disease: Overview

Lysosomes enable cells to fulfill their functions in a correct manner and support cells’ proliferation and growth. Concerning their structure, lysosomes can be described as small sphere-shaped organelles. Lysosomes contain dozens of different enzymes that enable them to act as the cell’s digestive system and transform unwanted substances into something that cells may use. Lysosomes also have membranes to prevent enzymes from damaging other parts of the cell.

The functions of the organelle being discussed include digesting or disposing of substances that can be found inside of the cell, and different enzymes are used for dissimilar purposes.

The chosen organelle’s inability to perform its functions in an adequate manner gives rise to the so-called lysosomal storage diseases that include rare genetically determined conditions. One of them is Krabbe disease that was named after a Danish researcher who discovered it at the beginning of the twentieth century (Wenger, Rafi, & Luzi, 2016).

The disease is caused by genetic mutations involving the GALC gene that encodes galactosylceramidase – one of the numerous lysosomal enzymes (Marshall & Bongarzone, 2016). Krabbe disease is an extremely dangerous condition that can affect toddlers or manifest itself later in life.

Krabbe disease is associated with multiple symptoms that severely affect a person’s everyday life. The most common examples of symptoms are neurosensory disturbances and deficits, muscular weakness and slowness of movement similar to the manifestations of Parkinson’s disease, and issues involving muscle relaxation or contraction (Marshall & Bongarzone, 2016).

Without proper treatment, the disease may result in premature death in infants. Just like other lysosomal storage diseases, Krabbe disease occurs since lysosomes do not get enough galactosylceramidase to process and dispose of unnecessary substances. As a result, instead of being recycled and transformed, such substances start to accumulate inside lysosomes, preventing the latter from operating correctly.

References

Marshall, M. S., & Bongarzone, E. R. (2016). Beyond Krabbe’s disease: The potential contribution of galactosylceramidase deficiency to neuronal vulnerability in late-onset synucleinopathies. Journal of Neuroscience Research, 94(11), 1328-1332.

Wenger, D. A., Rafi, M. A., & Luzi, P. (2016). Krabbe disease: One hundred years from the bedside to the bench to the bedside. Journal of Neuroscience Research, 94(11), 982-989.