#ScienceSaturday posts share relevant and exciting scientific news with the KAND community. This project is a collaboration between KIF1A.ORG’s Research Engagement Team Leader Alejandro Doval, President Kathryn Atchley, Science Communication Associate Aileen Lam and Chief Science Officer Dr. Dominique Lessard. Send news suggestions to our team at email@example.com.
Recent KIF1A-Related Research
Double Duty: Mitotic Kinesins and Their Post-Mitotic Functions in Neurons
Did you know that while you are reading this sentence there are older cells all over your body that are undergoing the process of making new cells? This is known as cell division, or mitosis, which is when one older “parent” cell divides into two new and identical “daughter” cells. Some cells, like our skin cells, are constantly dividing. How is this process able to continuously happen in our bodies? Cell division is made possible in part by kinesin molecular motors similar to KIF1A. In fact, there is a whole class of kinesins that are specialized for the intricate process of cell division. However, these cell division specialized kinesins (mitotic kinesins) present us with a question: what are these kinesin motors doing when our cells aren’t dividing? Are they still of use to other systems in our bodies?
Neurons are one of only a few types of cells in our bodies that do not divide yet remain functional for many decades. Because of this fact, the authors of this review article go into detail about how a non-dividing cell type like a neuron can utilize mitotic kinesins in ways outside of their usual role in cell division. It turns out that these mitotic kinesins are useful in many ways in our neurons such as regulating microtubule roadways, transporting cellular cargo, influencing the shape and dynamic movements of neurons, as well as influencing learning and memory. To a certain degree this makes sense: what’s better than having a type of cellular machinery that helps control one biological event? A type of cellular machinery that helps control many different biological events! This is just one form of redundancy in biological systems that make us human. Click the button below to read the paper and if you’d like to learn more about cell division, check out the videos below!
Rare Disease News
NORD COVID-19 Webinar Notes
Many members of our community have asked if it’s safe for KIF1A patients (who are old enough) to get a COVID vaccine. To help answer this question, KIF1A.ORG President Kathryn Atchley attended a webinar earlier this month hosted by the National Organization for Rare Disorders (NORD), the US Food and Drug Administration, and US Centers for Disease Control (CDC) to discuss COVID-19 vaccines with the rare disease community. In this document, she reports major takeaways and notes from this webinar. We have inserted the text into a webpage so it may be easier to translate the text from English using our website’s translation tool. The webinar was for a U.S. audience, but we believe some of the information could be beneficial for people in other countries who have access to the Pfizer-BioNTech and Moderna COVID-19 vaccines. As always, please consult with your doctor about your own health care decisions as everyone’s situation is unique.
RESEARCHERS USE PATIENTS’ CELLS TO TEST GENE THERAPY FOR RARE EYE DISEASE
Today we are highlighting one of the latest advancements in gene therapy strategy, developed by scientists at the National Eye Institute (NEI), for a rare eye disease that causes severe vision loss in children. This rare eye disease is a form of Leber congenital amaurosis (LCA) caused by autosomal-dominant mutations in the CRX gene, which normally produces a protein that binds to DNA and allows the eye to detect light. In the article, researchers tested a gene therapy approach by using retinal organoids, or lab-made eye tissue from patient cells, and added copies of the normal gene to restore CRX function. To further study the effects of gene augmentation, Anand Swaroop, Ph.D., and Kamil Kruczek, Ph.D., looked at retinal organoids from LCA patients and their unaffected family members at different stages. By controlling the expression of the CRX gene, these scientists were able to revive CRX function and bring insight on potential gene augmentation therapies that could treat a rare form of LCA caused by autosomal-dominant mutations. To learn more about this new gene therapy strategy, click on the article below! Also check out the video below to learn more about Leber congenital amaurosis.