According to a story from IRB Barcelona, a recent conference has brought together researchers from around the world that are dedicated to the study of the cell cycle and two different cellular organelles that appear to play a significant role in rare disease. These organelles are the cilia and the centrosome, and new research about how these impact rare diseases and rare cancers has been coming to light.

Organelles are essentially the organs of a cell. The organelles are essential for them to function normally. Cilia, are slender, rod-like projections that appear on the outside of the cell. Cells can have primary (nonmotile) cilia and motile cilia. Motile cilia on the surfaces of cells work together in harmony by “beating” in a wavelike motion in-sync with each other. This allows for the movement of particles. For example, cilia in female mammals allow egg cells to move from the ovary to the uterus. The centrosome is the main microtubule organizing center in animal cells and also plays a the central role in regulating the progression of the cellular division cycle, and is responsible for segregating chromosomes in correct proportions.

Both of these organelles can play a role in several different rare diseases, and disruption of their normal function can have major consequences. Take cystic fibrosis as an example. This genetic lung disease that causes the buildup of thick, sticky mucus in the lungs that makes them vulnerable to infection, and when the abnormal, thickened mucus begins to appear, the cilia along the surface of the respiratory system are essentially immobilized. This allows for the mucus to continue to build up and cause harm. Normally, cilia play a major role in clearing debris and mucus from the airway.

Centrosomes can play a role in many rare cancers; abnormalities in the number of centrosomes can cause disruptions in the cell division process. For example, when chromosomes are not segregated correctly, this can lead to genomic instability. This can help facilitate the development of cancer in affected cells.

Another example is the case of Seckel syndrome, which causes dwarfism and microcephaly (small head size), the genes that have been identified in playing a role in the syndrome have also been determined to be essential for the regulation of the cellular division cycle. How this new knowledge will lead to new treatment approaches has yet to be seen.

What are your thoughts on this fascinating research? Share your stories, thoughts, and hopes with the Patient Worthy community!