#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 Volunteer Aileen Lam and Chief Science Officer Dr. Dominique Lessard. Send news suggestions to our team at impact@kif1a.org.

Thank You for Accelerating KIF1A Research!

This #GivingTuesday we raised over $65,000 to accelerate research to find treatments for KIF1A Associated Neurological Disorder! Thank you for all your support and encouragement as we race toward a brighter future for KIF1A superheroes everywhere.

Join Us for an Ovid x Mighty Facebook Live Chat!

If you’re part of the KIF1A or rare disease community, join us on Tuesday, December 7th, with The Mighty to share ideas about how we can all help improve research and therapies! Register here.

KIF1A-Related Research

Motor domain-mediated autoinhibition dictates axonal transport by the kinesin UNC-104/KIF1A

While KIF1A is a highly important protein in our nervous system, it also uses up a lot of cellular energy to function optimally. Like other systems in our body, our nervous system needs a way to regulate energy usage to make sure that a KIF1A protein can be turned “off” when it is not immediately needed in our cells. One way that proteins can be regulated is through the concept of autoinhibition. Autoinhibition can be thought of as a way that a KIF1A protein can switch itself into “energy saving mode.” This concept is not unique to KIF1A and can be observed in many other proteins in our bodies, especially those that use a lot of energy.

In the paper we are featuring today, researchers from the Chinese Academy of Science are exploring a new form of KIF1A autoinhibition. Although KIF1A autoinhibition has been reported in the past, the study details a new form of autoinhibition that is mediated between two regions of the KIF1A protein called the motor domain and the CC1 domain. Furthermore, the authors identified KIF1A variants within these regions that impact KIF1A autoinhibition and shift the KIF1A motor into a hyperactive state. In other words, from this study we learn that certain KIF1A variants make it harder for KIF1A to transition into “energy saving mode,” leading to overactivity of the KIF1A protein. Want to learn more about kinesin protein function and how autoinhibition plays a role? Check out the video below!

Rare Roundup

Gene therapy may reverse Hurler syndrome, a rare and severe illness in kids

This week we are sharing an intriguing development in the field of rare disease gene therapy in the context of Hurler syndrome, a lysosomal disorder that arises when an individual inherits two flawed copies of a gene called IDUA. Like many rare disease, successful treatment for the Hurler syndrome community partially relies on treatments being able to cross the “blood brain barrier,” allowing the treatment to reach the brain. One approach to overcome this barrier is to utilize a patient’s own stem cells, a type of cell that can change into the other types of cells that make up the body. Broadly, this gene therapy attempt involved isolating a patient’s stem cells, using a gene therapy approach to introduce a copy of the functioning IDUA gene, and placing the gene-edited stem cells back into the original patient – fascinating! To learn more about this recent development, click the button below!

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